A4V (p.Ala4Val) variant of AVPR2 (Vasopressin V2 receptor)
A4V (p.Ala4Val) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- ExAC rs782726046
- gnomAD rs782726046
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- CADD 2.81
- PolyPhen-2 0.00
- SIFT 0.85
- Population evidence available
- Structural context available