Q28P (p.Gln28Pro) variant of CA2 (Carbonic anhydrase 2)
Q28P (p.Gln28Pro) in CA2 (Carbonic anhydrase 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
Q28P (p.Gln28Pro) variant details
- p.Gln28Pro
- rs1564077024
- gnomAD 8-85465316-C-CG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.714
- CADD 31.00
- Population evidence available
- Structural context available
- Literature evidence available