A65G (p.Ala65Gly) variant of CA2 (Carbonic anhydrase 2)
A65G (p.Ala65Gly) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A65G (p.Ala65Gly) variant details
- p.Ala65Gly
- Ensembl rs1811614131
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.29
- MetaLR 0.38
- MetaSVM -0.56
- CADD 23.20
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available