S4Y (p.Ser4Tyr) variant of PKD2 (Polycystin-2)
S4Y (p.Ser4Tyr) in PKD2 (Polycystin-2) 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 0.30 / 1. The record also includes population frequency data and structural context.
S4Y (p.Ser4Tyr) variant details
- p.Ser4Tyr
- rs1726221678
- ClinGen CA357624790
- ClinVar RCV002508657
- TOPMed rs1726221678
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.06
- CADD 20.40
- PolyPhen-2 0.02
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available