A39V (p.Ala39Val) variant of AVPR2 (Vasopressin V2 receptor)
A39V (p.Ala39Val) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A39V (p.Ala39Val) variant details
- p.Ala39Val
- TOPMed rs2064957926
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- CADD 0.80
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available