C47R (p.Cys47Arg) variant of PKD1 (Polycystin-1)
C47R (p.Cys47Arg) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
C47R (p.Cys47Arg) variant details
- p.Cys47Arg
- TOPMed rs2092940626
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.25
- MetaLR 0.10
- MetaSVM -1.01
- CADD 25.40
- PolyPhen-2 0.96
- SIFT 0.01
- Population evidence available
- Structural context available