G25V (p.Gly25Val) variant of PKD1 (Polycystin-1)
G25V (p.Gly25Val) in PKD1 (Polycystin-1) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
G25V (p.Gly25Val) variant details
- p.Gly25Val
- rs972049140
- ClinGen CA276756583
- ClinVar RCV000517600
- ClinVar RCV001254275
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0737
- REVEL 0.02
- MetaLR 0.04
- MetaSVM -1.05
- CADD 4.90
- PolyPhen-2 0.00
- SIFT 0.08
- EBI: Benign
- UniProt: Benign
- Most common in the Middle Eastern population (allele frequency 0.0006)
- 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)