A54V (p.Ala54Val) variant of CA2 (Carbonic anhydrase 2)
A54V (p.Ala54Val) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A54V (p.Ala54Val) variant details
- p.Ala54Val
- gnomAD 8-85465398-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.06
- MetaLR 0.19
- MetaSVM -0.92
- CADD 9.76
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available