C2495R (p.Cys2495Arg) variant of PKD1 (Polycystin-1)
C2495R (p.Cys2495Arg) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Polycystic kidney disease, adult type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
C2495R (p.Cys2495Arg) variant details
- p.Cys2495Arg
- rs2092338268
- ClinGen CA394369381
- ClinVar RCV001663791
- ClinVar RCV005005992
- Pathogenic/Likely pathogenic
- not provided; Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- AlphaMissense 0.98
- MetaLR 0.65
- MetaSVM 0.41
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Pathogenic/Likely pathogenic (not provided; Polycystic kidney disease, adult type)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)