Y7V (p.Tyr7Val) variant of CA2 (Carbonic anhydrase 2)
Y7V (p.Tyr7Val) in CA2 (Carbonic anhydrase 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
Y7V (p.Tyr7Val) variant details
- p.Tyr7Val
- gnomAD 8-85464094-T-TG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.657
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available