H3Q (p.His3Gln) variant of CA2 (Carbonic anhydrase 2)
H3Q (p.His3Gln) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
H3Q (p.His3Gln) variant details
- p.His3Gln
- gnomAD 8-85464090-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.19
- MetaLR 0.39
- MetaSVM -0.69
- CADD 17.60
- PolyPhen-2 0.07
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available