Y7T (p.Tyr7Thr) variant of CA2 (Carbonic anhydrase 2)
Y7T (p.Tyr7Thr) 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.
Y7T (p.Tyr7Thr) variant details
- p.Tyr7Thr
- gnomAD 8-85464094-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.651
- CADD 32.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available