G12V (p.Gly12Val) variant of AVPR2 (Vasopressin V2 receptor)
G12V (p.Gly12Val) 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 published literature.
G12V (p.Gly12Val) variant details
- p.Gly12Val
- gnomAD X-153905541-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- CADD 8.61
- PolyPhen-2 0.01
- SIFT 0.18
- Population evidence available
- Literature evidence available