A63V (p.Ala63Val) variant of AVPR2 (Vasopressin V2 receptor)
A63V (p.Ala63Val) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
A63V (p.Ala63Val) variant details
- p.Ala63Val
- gnomAD X-153905694-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0666
- CADD 0.08
- PolyPhen-2 0.01
- SIFT 0.60
- Population evidence available
- Structural context available
- Literature evidence available