G63T (p.Gly63Thr) variant of CA2 (Carbonic anhydrase 2)
G63T (p.Gly63Thr) in CA2 (Carbonic anhydrase 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
G63T (p.Gly63Thr) variant details
- p.Gly63Thr
- gnomAD 8-85465418-A-AACA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.653
- CADD 28.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available