R64H (p.Arg64His) variant of PKD1 (Polycystin-1)
R64H (p.Arg64His) in PKD1 (Polycystin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
R64H (p.Arg64His) variant details
- p.Arg64His
- TOPMed rs1300272809
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.09
- MetaLR 0.07
- MetaSVM -1.03
- CADD 23.20
- PolyPhen-2 0.59
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available