H3L (p.His3Leu) variant of CA2 (Carbonic anhydrase 2)
H3L (p.His3Leu) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
H3L (p.His3Leu) variant details
- p.His3Leu
- gnomAD 8-85464089-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.37
- MetaLR 0.37
- MetaSVM -0.33
- CADD 21.40
- PolyPhen-2 0.20
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available