V49A (p.Val49Ala) variant of AVPR2 (Vasopressin V2 receptor)
V49A (p.Val49Ala) 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 and structural context.
V49A (p.Val49Ala) variant details
- p.Val49Ala
- gnomAD rs1557100457
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- CADD 17.00
- PolyPhen-2 0.04
- SIFT 0.43
- Population evidence available
- Structural context available