A54T (p.Ala54Thr) variant of CA2 (Carbonic anhydrase 2)
A54T (p.Ala54Thr) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A54T (p.Ala54Thr) variant details
- p.Ala54Thr
- gnomAD 8-85465397-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.04
- MetaLR 0.13
- MetaSVM -1.01
- CADD 9.75
- PolyPhen-2 0.01
- SIFT 0.39
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available