D511V (p.Asp511Val) variant of PKD2 (Polycystin-2)
D511V (p.Asp511Val) in PKD2 (Polycystin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Polycystic kidney disease 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
D511V (p.Asp511Val) variant details
- p.Asp511Val
- rs121918043
- ClinGen CA123166
- ClinVar RCV000014479
- UniProt VAR 058827
- Pathogenic
- Polycystic kidney disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.971
- AlphaMissense 0.95
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic (Polycystic kidney disease 2)
- EBI: Pathogenic (in PKD2)
- UniProt: Pathogenic (in PKD2)
- Structural context available
- Cited in: Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease. (PMID 10541293)
- Cited in: Polycystin-2 is an intracellular calcium release channel. (PMID 11854751)