H64H (p.His64His) variant of CA2 (Carbonic anhydrase 2)
H64H (p.His64His) in CA2 (Carbonic anhydrase 2) is a synonymous 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.
H64H (p.His64His) variant details
- p.His64His
- rs759693878
- gnomAD 8-85465429-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.447
- CADD 10.40
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available