S54R (p.Ser54Arg) variant of AVPR2 (Vasopressin V2 receptor)
S54R (p.Ser54Arg) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S54R (p.Ser54Arg) variant details
- p.Ser54Arg
- gnomAD X-153905666-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- CADD 23.30
- PolyPhen-2 0.81
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available