A72V (p.Ala72Val) variant of AVPR2 (Vasopressin V2 receptor)
A72V (p.Ala72Val) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
A72V (p.Ala72Val) variant details
- p.Ala72Val
- TOPMed rs1344096618
- gnomAD rs1344096618
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- CADD 24.10
- PolyPhen-2 0.97
- SIFT 0.01
- Population evidence available
- Structural context available