P21S (p.Pro21Ser) variant of PKD2 (Polycystin-2)
P21S (p.Pro21Ser) in PKD2 (Polycystin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Polycystic kidney disease 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
P21S (p.Pro21Ser) variant details
- p.Pro21Ser
- TOPMed rs1265006798
- gnomAD rs1265006798
- Uncertain significance
- Polycystic kidney disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.04
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (Polycystic kidney disease 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available