I22F (p.Ile22Phe) variant of CA2 (Carbonic anhydrase 2)
I22F (p.Ile22Phe) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
I22F (p.Ile22Phe) variant details
- p.Ile22Phe
- gnomAD 8-85465301-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.51
- MetaLR 0.56
- MetaSVM -0.11
- CADD 22.60
- PolyPhen-2 0.04
- SIFT 0.03
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available