V51A (p.Val51Ala) variant of AVPR2 (Vasopressin V2 receptor)
V51A (p.Val51Ala) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
V51A (p.Val51Ala) variant details
- p.Val51Ala
- gnomAD X-153905658-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- CADD 17.00
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available