A23V (p.Ala23Val) variant of CA2 (Carbonic anhydrase 2)
A23V (p.Ala23Val) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
A23V (p.Ala23Val) variant details
- p.Ala23Val
- Ensembl rs1811610769
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.86
- MetaLR 0.80
- MetaSVM 0.81
- CADD 27.00
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available