A60T (p.Ala60Thr) variant of AVPR2 (Vasopressin V2 receptor)
A60T (p.Ala60Thr) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
A60T (p.Ala60Thr) variant details
- p.Ala60Thr
- gnomAD X-153905684-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- CADD 16.90
- PolyPhen-2 0.18
- SIFT 0.39
- Population evidence available
- Structural context available
- Literature evidence available