G56V (p.Gly56Val) variant of AVPR2 (Vasopressin V2 receptor)
G56V (p.Gly56Val) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
G56V (p.Gly56Val) variant details
- p.Gly56Val
- gnomAD X-153905673-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 0.56
- Population evidence available
- Structural context available
- Literature evidence available