W34* (p.Trp34Ter) variant of AQP2 (Aquaporin-2)
W34* (p.Trp34Ter) in AQP2 (Aquaporin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
W34* (p.Trp34Ter) variant details
- p.Trp34Ter
- ExAC rs777037742
- gnomAD rs777037742
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.873
- CADD 38.00
- Population evidence available
- Structural context available