G12* (p.Gly12Ter) variant of CA2 (Carbonic anhydrase 2)
G12* (p.Gly12Ter) in CA2 (Carbonic anhydrase 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G12* (p.Gly12Ter) variant details
- p.Gly12Ter
- gnomAD 8-85464115-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.85
- CADD 54.00
- Population evidence available
- Structural context available
- Literature evidence available