A9D (p.Ala9Asp) variant of AVPR2 (Vasopressin V2 receptor)
A9D (p.Ala9Asp) 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, published literature, and structural context.
A9D (p.Ala9Asp) variant details
- p.Ala9Asp
- gnomAD X-153905532-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- CADD 15.90
- PolyPhen-2 0.21
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available