Y48M (p.Tyr48Met) variant of KCNE2 (Q9Y6J6)
Y48M (p.Tyr48Met) in KCNE2 (Q9Y6J6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
Y48M (p.Tyr48Met) variant details
- p.Tyr48Met
- rs2123423791
- gnomAD 21-34370618-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.552
- CADD 26.70
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available