C39Y (p.Cys39Tyr) variant of PKD1 (Polycystin-1)
C39Y (p.Cys39Tyr) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Polycystic kidney disease, adult type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
C39Y (p.Cys39Tyr) variant details
- p.Cys39Tyr
- rs2151858290
- ClinGen CA394282654
- ClinVar RCV001767473
- ClinVar RCV005006023
- Conflicting interpretations
- not provided; Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.21
- MetaLR 0.16
- MetaSVM -0.98
- CADD 23.10
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Polycystic kidney disease, adult type)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)