S54S (p.Ser54Ser) variant of AVPR2 (Vasopressin V2 receptor)
S54S (p.Ser54Ser) in AVPR2 (Vasopressin V2 receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S54S (p.Ser54Ser) variant details
- p.Ser54Ser
- gnomAD X-153905668-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.39
- CADD 11.70
- Population evidence available
- Structural context available
- Literature evidence available