I22V (p.Ile22Val) variant of CA2 (Carbonic anhydrase 2)
I22V (p.Ile22Val) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
I22V (p.Ile22Val) variant details
- p.Ile22Val
- gnomAD 8-85465301-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.23
- MetaLR 0.31
- MetaSVM -0.72
- CADD 16.40
- PolyPhen-2 0.01
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available