S54G (p.Ser54Gly) variant of AVPR2 (Vasopressin V2 receptor)
S54G (p.Ser54Gly) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S54G (p.Ser54Gly) variant details
- p.Ser54Gly
- gnomAD X-153905666-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.82
- Population evidence available
- Structural context available
- Literature evidence available