S8S (p.Ser8Ser) variant of AVPR2 (Vasopressin V2 receptor)
S8S (p.Ser8Ser) in AVPR2 (Vasopressin V2 receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
S8S (p.Ser8Ser) variant details
- p.Ser8Ser
- rs201419746
- gnomAD X-153905169-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.0807
- CADD 0.01
- Population evidence available
- Structural context available
- Literature evidence available