C331Y (p.Cys331Tyr) variant of PKD2 (Polycystin-2)
C331Y (p.Cys331Tyr) in PKD2 (Polycystin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Polycystic kidney disease 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
C331Y (p.Cys331Tyr) variant details
- p.Cys331Tyr
- rs1578130536
- ClinGen CA357632908
- ClinVar RCV002275737
- ClinVar RCV005032214
- Likely pathogenic
- not provided; Polycystic kidney disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- AlphaMissense 0.99
- MetaLR 0.70
- MetaSVM 0.59
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Likely pathogenic (not provided; Polycystic kidney disease 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)