K45* (p.Lys45Ter) variant of CA2 (Carbonic anhydrase 2)
K45* (p.Lys45Ter) in CA2 (Carbonic anhydrase 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
K45* (p.Lys45Ter) variant details
- p.Lys45Ter
- gnomAD 8-85465370-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.453
- CADD 36.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available