R64Q (p.Arg64Gln) variant of AVPR2 (Vasopressin V2 receptor)
R64Q (p.Arg64Gln) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
R64Q (p.Arg64Gln) variant details
- p.Arg64Gln
- TOPMed rs963081717
- gnomAD rs963081717
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- CADD 22.80
- PolyPhen-2 0.97
- SIFT 0.03
- Population evidence available
- Structural context available