Y47* (p.Tyr47Ter) variant of KCNE2 (Q9Y6J6)
Y47* (p.Tyr47Ter) in KCNE2 (Q9Y6J6) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
Y47* (p.Tyr47Ter) variant details
- p.Tyr47Ter
- ExAC rs779623946
- TOPMed rs779623946
- gnomAD rs779623946
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.588
- CADD 36.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available