H3H (p.His3His) variant of CA2 (Carbonic anhydrase 2)
H3H (p.His3His) in CA2 (Carbonic anhydrase 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
H3H (p.His3His) variant details
- p.His3His
- gnomAD 8-85464090-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.496
- CADD 13.00
- Population evidence available
- Structural context available
- Literature evidence available