H4Q (p.His4Gln) variant of CA2 (Carbonic anhydrase 2)
H4Q (p.His4Gln) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
H4Q (p.His4Gln) variant details
- p.His4Gln
- gnomAD 8-85464093-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.22
- MetaLR 0.50
- MetaSVM -0.15
- CADD 19.30
- PolyPhen-2 0.11
- SIFT 0.53
- Population evidence available
- Structural context available
- Literature evidence available