P34A (p.Pro34Ala) variant of AVPR2 (Vasopressin V2 receptor)
P34A (p.Pro34Ala) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
P34A (p.Pro34Ala) variant details
- p.Pro34Ala
- Ensembl rs1010873312
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- CADD 4.34
- PolyPhen-2 0.00
- SIFT 0.60
- Population evidence available
- Structural context available