V58A (p.Val58Ala) variant of AVPR2 (Vasopressin V2 receptor)
V58A (p.Val58Ala) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
V58A (p.Val58Ala) variant details
- p.Val58Ala
- ExAC rs782247846
- gnomAD rs782247846
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- CADD 24.60
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available