H4Y (p.His4Tyr) variant of CA2 (Carbonic anhydrase 2)
H4Y (p.His4Tyr) in CA2 (Carbonic anhydrase 2) is a missense 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.
H4Y (p.His4Tyr) variant details
- p.His4Tyr
- gnomAD 8-85464091-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.31
- MetaLR 0.53
- MetaSVM 0.16
- CADD 22.70
- PolyPhen-2 0.07
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available