I33I (p.Ile33Ile) variant of CA2 (Carbonic anhydrase 2)
I33I (p.Ile33Ile) in CA2 (Carbonic anhydrase 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
I33I (p.Ile33Ile) variant details
- p.Ile33Ile
- rs755204118
- gnomAD 8-85465336-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.118
- CADD 5.28
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available