| Variant ID | 955 |
|---|---|
| Entrez Gene ID | 253143 |
| Gene | PRR14L (GeneCards) |
| Location | hg19 22:32112686-32112686
hg38 22:31716700-31716700 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000022.10:g.32112686 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 380 |
| Amino acid changes in protein | S > F |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 51304566 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.6015 |
| CADD Raw score (version 1.3) | 2.145106 (Deleterious) |
| FATHMM raw prediction score | 0.10698 (Tolerated) |
| SIFT score | 0.014 (Deleterious) |
| LRT score | 0.058 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.795 (Tolerated) |
| PROVEAN score | -2.51 (Deleterious) |
| MetaSVM score | -1.107 (Tolerated) |
| MetaLR score | 0.046 (Tolerated) |
| MCAP score | 0.044 (Deleterious) |
| FitCons score | 0.563 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.93 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.865 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.009 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 11.156 |
| Deleterious probability by iFish2 | 0.3818 (Neutral) |
| Deleterious probability by DeFine | 0.7711 (Deleterious) |
| Entrez Gene ID | 253143 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PRR14L (GeneCards) |
| Number of variants in PRR14L in this database | 1 (view all the variants) |
| Full name | proline rich 14 like |
| Band | 22q12.2 |
| Other IDs | Vega: OTTHUMG00000030139 HGNC: HGNC:28738 Ensembl: ENSG00000183530 |
| Other names | C22orf30 |
| 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; |