Y22* (p.Tyr22Ter) variant of KCNE2 (Q9Y6J6)
Y22* (p.Tyr22Ter) in KCNE2 (Q9Y6J6) is a protein-truncating 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.
Y22* (p.Tyr22Ter) variant details
- p.Tyr22Ter
- gnomAD 21-34370544-T-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.232
- CADD 21.40
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available