R510P (p.Arg510Pro) variant of PKD1 (Polycystin-1)
R510P (p.Arg510Pro) 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; PKD1-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
R510P (p.Arg510Pro) variant details
- p.Arg510Pro
- rs1293305047
- ClinGen CA394391829
- ClinVar RCV003402860
- ClinVar RCV005012935
- Likely pathogenic
- Polycystic kidney disease, adult type; PKD1-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- AlphaMissense 0.40
- MetaLR 0.05
- MetaSVM -1.07
- PolyPhen-2 1.00
- SIFT 0.21
- EVE 0.58
- ClinVar: Likely pathogenic (Polycystic kidney disease, adult type; PKD1-related disorder; no)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)