S54I (p.Ser54Ile) variant of AVPR2 (Vasopressin V2 receptor)
S54I (p.Ser54Ile) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
S54I (p.Ser54Ile) variant details
- p.Ser54Ile
- gnomAD X-153905667-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- CADD 25.30
- PolyPhen-2 0.62
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available