p.Ile33 Asp34del variant of CA2 (Carbonic anhydrase 2)
p.Ile33 Asp34del in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ile33 Asp34del variant details
- gnomAD 8-85465330-TGACAT
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.227
- CADD 20.60
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available