G3144R (p.Gly3144Arg) variant of PKD1 (Polycystin-1)
G3144R (p.Gly3144Arg) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G3144R (p.Gly3144Arg) variant details
- p.Gly3144Arg
- rs1596515144
- ClinVar RCV004556917
- ClinGen CA394356576
- ClinVar RCV001002517
- Likely pathogenic
- Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.93
- MetaLR 0.77
- MetaSVM 0.86
- CADD 27.00
- 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)