A39E (p.Ala39Glu) variant of AVPR2 (Vasopressin V2 receptor)
A39E (p.Ala39Glu) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A39E (p.Ala39Glu) variant details
- p.Ala39Glu
- gnomAD X-153905622-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- CADD 16.50
- PolyPhen-2 0.86
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available