W5* (p.Trp5Ter) variant of CA2 (Carbonic anhydrase 2)
W5* (p.Trp5Ter) in CA2 (Carbonic anhydrase 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
W5* (p.Trp5Ter) variant details
- p.Trp5Ter
- ESP rs372555587
- TOPMed rs372555587
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.829
- CADD 39.00
- Population evidence available
- Structural context available