I22T (p.Ile22Thr) variant of CA2 (Carbonic anhydrase 2)
I22T (p.Ile22Thr) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
I22T (p.Ile22Thr) variant details
- p.Ile22Thr
- gnomAD rs1400106377
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.60
- MetaLR 0.47
- MetaSVM -0.37
- CADD 23.60
- PolyPhen-2 0.06
- SIFT 0.03
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available