| Variant ID | 1019 |
|---|---|
| Entrez Gene ID | 143884 |
| Gene | CWF19L2 (GeneCards) |
| Location | hg19 11:107300089-107300089
hg38 11:107429363-107429363 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000011.9:g.107300089 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 290 |
| Amino acid changes in protein | P > L |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0947 |
| CADD Raw score (version 1.3) | 3.440392 (Deleterious) |
| FATHMM raw prediction score | 0.75731 (Tolerated) |
| SIFT score | 0.013 (Deleterious) |
| LRT score | 0.596 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.665 (Deleterious) |
| PROVEAN score | -2.47 (Tolerated) |
| MetaSVM score | -1.056 (Tolerated) |
| MetaLR score | 0.063 (Tolerated) |
| MCAP score | 0.006 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.45 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.217 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.026 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.781 |
| Deleterious probability by iFish2 | 0.5369 (Deleterious) |
| Deleterious probability by DeFine | 0.7464 (Deleterious) |
| Entrez Gene ID | 143884 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CWF19L2 (GeneCards) |
| Number of variants in CWF19L2 in this database | 6 (view all the variants) |
| Full name | CWF19 like cell cycle control factor 2 |
| Band | 11q22.3 |
| Other IDs | Vega: OTTHUMG00000152975 HGNC: HGNC:26508 Ensembl: ENSG00000152404 |
| Other names | None |
| Summary | None |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |