W135C (p.Trp135Cys) variant of PKD1 (Polycystin-1)
W135C (p.Trp135Cys) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Polycystic kidney disease, adult type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
W135C (p.Trp135Cys) variant details
- p.Trp135Cys
- rs2092679535
- ClinGen CA394395594
- ClinVar RCV001289051
- ClinVar RCV002499508
- Uncertain significance
- not provided; Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.79
- MetaLR 0.89
- MetaSVM 1.02
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Polycystic kidney disease, adult type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)