H10R (p.His10Arg) variant of CA2 (Carbonic anhydrase 2)
H10R (p.His10Arg) 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.
H10R (p.His10Arg) variant details
- p.His10Arg
- gnomAD 8-85464110-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.10
- MetaLR 0.15
- MetaSVM -1.02
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available