W139C (p.Trp139Cys) variant of PKD1 (Polycystin-1)
W139C (p.Trp139Cys) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Polycystic kidney disease, adult type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
W139C (p.Trp139Cys) variant details
- p.Trp139Cys
- rs2544883148
- ClinGen CA394395558
- ClinVar RCV003494528
- UniProt VAR 011032
- Likely pathogenic
- Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.85
- MetaLR 0.92
- MetaSVM 1.09
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Polycystic kidney disease, adult type)
- EBI: Pathogenic (in PKD1)
- UniProt: Pathogenic (in PKD1)
- Population evidence available
- Structural context available
- Cited in: Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications. (PMID 11115377)
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)