H10L (p.His10Leu) variant of CA2 (Carbonic anhydrase 2)
H10L (p.His10Leu) 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.
H10L (p.His10Leu) variant details
- p.His10Leu
- gnomAD 8-85464110-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.10
- MetaLR 0.14
- MetaSVM -1.01
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available