R3152G (p.Arg3152Gly) variant of PKD1 (Polycystin-1)
R3152G (p.Arg3152Gly) 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 0.64 / 1. The record also includes published literature and structural context.
R3152G (p.Arg3152Gly) variant details
- p.Arg3152Gly
- rs776866974
- ClinGen CA394356490
- ClinVar RCV001281318
- ExAC rs776866974
- Likely pathogenic
- Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- AlphaMissense 0.72
- MetaLR 0.52
- MetaSVM 0.21
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Likely pathogenic (Polycystic kidney disease, adult type)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)