I33M (p.Ile33Met) variant of CA2 (Carbonic anhydrase 2)
I33M (p.Ile33Met) in CA2 (Carbonic anhydrase 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
I33M (p.Ile33Met) variant details
- p.Ile33Met
- gnomAD 8-85465335-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.548
- CADD 15.60
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available