R54S (p.Arg54Ser) variant of PKD1 (Polycystin-1)
R54S (p.Arg54Ser) 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 0.19 / 1. The record also includes population frequency data and structural context.
R54S (p.Arg54Ser) variant details
- p.Arg54Ser
- TOPMed rs1053936081
- gnomAD rs1053936081
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.07
- MetaLR 0.04
- MetaSVM -1.06
- CADD 17.10
- PolyPhen-2 0.05
- SIFT 0.68
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available