Y48* (p.Tyr48Ter) variant of KCNE2 (Q9Y6J6)
Y48* (p.Tyr48Ter) in KCNE2 (Q9Y6J6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
Y48* (p.Tyr48Ter) variant details
- p.Tyr48Ter
- ExAC rs780373385
- gnomAD rs780373385
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.261
- CADD 25.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available