G1832V (p.Gly1832Val) variant of PKD1 (Polycystin-1)
G1832V (p.Gly1832Val) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Polycystic kidney disease, adult type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
G1832V (p.Gly1832Val) variant details
- p.Gly1832Val
- rs2544812034
- ClinGen CA394376618
- ClinVar RCV003416660
- ClinVar RCV005021945
- Likely pathogenic
- Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.71
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (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)