H64L (p.His64Leu) variant of CA2 (Carbonic anhydrase 2)
H64L (p.His64Leu) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
H64L (p.His64Leu) variant details
- p.His64Leu
- gnomAD 8-85465428-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.85
- MetaLR 0.56
- MetaSVM 0.41
- CADD 26.90
- PolyPhen-2 0.77
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available