S5Y (p.Ser5Tyr) variant of AVPR2 (Vasopressin V2 receptor)
S5Y (p.Ser5Tyr) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S5Y (p.Ser5Tyr) variant details
- p.Ser5Tyr
- TOPMed rs1197684219
- gnomAD rs1197684219
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- CADD 10.40
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available