Y368C (p.Tyr368Cys) variant of PKD2 (Polycystin-2)
Y368C (p.Tyr368Cys) in PKD2 (Polycystin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal dominant polycystic kidney disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
Y368C (p.Tyr368Cys) variant details
- p.Tyr368Cys
- rs2110112018
- ClinGen CA357615375
- ClinVar RCV001845014
- Ensembl rs2110112018
- Likely pathogenic
- Autosomal dominant polycystic kidney disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- AlphaMissense 0.65
- MetaLR 0.67
- MetaSVM 0.54
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Likely pathogenic (Autosomal dominant polycystic kidney disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)
- Cited in: Spanish guidelines for the management of autosomal dominant polycystic kidney disease. (PMID 25165191)