H3R (p.His3Arg) variant of CA2 (Carbonic anhydrase 2)
H3R (p.His3Arg) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
H3R (p.His3Arg) variant details
- p.His3Arg
- gnomAD 8-85464089-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.25
- MetaLR 0.48
- MetaSVM -0.15
- CADD 22.60
- PolyPhen-2 0.04
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available