R28S (p.Arg28Ser) variant of PKD1 (Polycystin-1)
R28S (p.Arg28Ser) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R28S (p.Arg28Ser) variant details
- p.Arg28Ser
- rs963532477
- ClinGen CA394282830
- ClinVar RCV003417581
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.06
- MetaLR 0.04
- MetaSVM -1.07
- CADD 22.60
- PolyPhen-2 0.13
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available