A9V (p.Ala9Val) variant of AVPR2 (Vasopressin V2 receptor)
A9V (p.Ala9Val) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- cosmic curated COSV61686
- TOPMed rs1170533809
- gnomAD rs1170533809
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.04
- Population evidence available
- Structural context available