Y292C (p.Tyr292Cys) variant of PKD2 (Polycystin-2)
Y292C (p.Tyr292Cys) in PKD2 (Polycystin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Polycystic kidney disease 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
Y292C (p.Tyr292Cys) variant details
- p.Tyr292Cys
- rs1560608538
- ClinGen CA357632375
- ClinVar RCV001249171
- ClinVar RCV005038013
- Likely pathogenic
- Polycystic kidney disease 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.91
- AlphaMissense 0.43
- MetaLR 0.59
- MetaSVM 0.38
- CADD 29.50
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Polycystic kidney disease 2; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)