A39T (p.Ala39Thr) variant of AVPR2 (Vasopressin V2 receptor)
A39T (p.Ala39Thr) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
A39T (p.Ala39Thr) variant details
- p.Ala39Thr
- gnomAD X-153905621-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- CADD 16.10
- PolyPhen-2 0.34
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available