H4H (p.His4His) variant of CA2 (Carbonic anhydrase 2)
H4H (p.His4His) in CA2 (Carbonic anhydrase 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
H4H (p.His4His) variant details
- p.His4His
- rs989228844
- gnomAD 8-85464093-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.442
- CADD 14.70
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available