V58M (p.Val58Met) variant of AVPR2 (Vasopressin V2 receptor)
V58M (p.Val58Met) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
V58M (p.Val58Met) variant details
- p.Val58Met
- gnomAD X-153905678-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available