R3269Q (p.Arg3269Gln) variant of PKD1 (Polycystin-1)
R3269Q (p.Arg3269Gln) 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 0.51 / 1. The record also includes population frequency data and structural context.
R3269Q (p.Arg3269Gln) variant details
- p.Arg3269Gln
- rs550467690
- NCI-TCGA Cosmic COSV5191
- 1000Genomes rs550467690
- ExAC rs550467690
- Likely pathogenic
- Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.44
- MetaLR 0.39
- MetaSVM -0.05
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Polycystic kidney disease, adult type)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available