A52V (p.Ala52Val) variant of AVPR2 (Vasopressin V2 receptor)
A52V (p.Ala52Val) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A52V (p.Ala52Val) variant details
- p.Ala52Val
- ExAC rs782464773
- gnomAD rs782464773
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- CADD 18.80
- PolyPhen-2 0.01
- SIFT 0.08
- Population evidence available
- Structural context available