R8H (p.Arg8His) variant of PKD1 (Polycystin-1)
R8H (p.Arg8His) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R8H (p.Arg8His) variant details
- p.Arg8His
- TOPMed rs1366403752
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.06
- MetaLR 0.04
- MetaSVM -1.05
- CADD 22.80
- PolyPhen-2 0.19
- SIFT 0.15
- Population evidence available
- Structural context available