A54E (p.Ala54Glu) variant of CA2 (Carbonic anhydrase 2)
A54E (p.Ala54Glu) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A54E (p.Ala54Glu) variant details
- p.Ala54Glu
- ExAC rs762111570
- gnomAD rs762111570
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.08
- MetaLR 0.20
- MetaSVM -0.93
- CADD 8.06
- PolyPhen-2 0.13
- SIFT 0.04
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available