Y1181C (p.Tyr1181Cys) variant of PKD1 (Polycystin-1)
Y1181C (p.Tyr1181Cys) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
Y1181C (p.Tyr1181Cys) variant details
- p.Tyr1181Cys
- rs1458516705
- ClinGen CA394382891
- ClinVar RCV001756517
- ClinVar RCV003426189
- Likely pathogenic
- Polycystic kidney disease, adult type; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- AlphaMissense 0.07
- MetaLR 0.29
- MetaSVM -0.86
- PolyPhen-2 0.04
- SIFT 0.80
- EVE 0.17
- ClinVar: Likely pathogenic (Polycystic kidney disease, adult type; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)