S54T (p.Ser54Thr) variant of AVPR2 (Vasopressin V2 receptor)
S54T (p.Ser54Thr) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
S54T (p.Ser54Thr) variant details
- p.Ser54Thr
- gnomAD X-153905667-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- CADD 22.70
- PolyPhen-2 0.57
- SIFT 0.57
- Population evidence available
- Structural context available
- Literature evidence available