A42T (p.Ala42Thr) variant of AVPR2 (Vasopressin V2 receptor)
A42T (p.Ala42Thr) 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, published literature, and structural context.
A42T (p.Ala42Thr) variant details
- p.Ala42Thr
- gnomAD X-153905630-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- CADD 17.00
- PolyPhen-2 0.28
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available