H4R (p.His4Arg) variant of CA2 (Carbonic anhydrase 2)
H4R (p.His4Arg) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
H4R (p.His4Arg) variant details
- p.His4Arg
- gnomAD 8-85464092-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.19
- MetaLR 0.43
- MetaSVM -0.60
- CADD 17.00
- PolyPhen-2 0.01
- SIFT 0.44
- Population evidence available
- Structural context available
- Literature evidence available