Y7* (p.Tyr7Ter) variant of CA2 (Carbonic anhydrase 2)
Y7* (p.Tyr7Ter) in CA2 (Carbonic anhydrase 2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. 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.
Y7* (p.Tyr7Ter) variant details
- p.Tyr7Ter
- rs1554709677
- ClinGen CA371423059
- ClinVar RCV000625902
- Ensembl rs1554709677
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.87
- CADD 42.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available