H10Q (p.His10Gln) variant of CA2 (Carbonic anhydrase 2)
H10Q (p.His10Gln) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
H10Q (p.His10Gln) variant details
- p.His10Gln
- gnomAD 8-85464111-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.04
- MetaLR 0.12
- MetaSVM -1.03
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available