V49M (p.Val49Met) variant of AVPR2 (Vasopressin V2 receptor)
V49M (p.Val49Met) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
V49M (p.Val49Met) variant details
- p.Val49Met
- TOPMed rs2064958244
- gnomAD rs2064958244
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- CADD 18.70
- Population evidence available
- Structural context available