A4E (p.Ala4Glu) variant of AVPR2 (Vasopressin V2 receptor)
A4E (p.Ala4Glu) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
A4E (p.Ala4Glu) variant details
- p.Ala4Glu
- gnomAD X-153905156-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- CADD 5.88
- PolyPhen-2 0.04
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available