E26* (p.Glu26Ter) variant of AVPR2 (Vasopressin V2 receptor)
E26* (p.Glu26Ter) in AVPR2 (Vasopressin V2 receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E26* (p.Glu26Ter) variant details
- p.Glu26Ter
- gnomAD X-153905582-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available