Y47I (p.Tyr47Ile) variant of KCNE2 (Q9Y6J6)
Y47I (p.Tyr47Ile) in KCNE2 (Q9Y6J6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
Y47I (p.Tyr47Ile) variant details
- p.Tyr47Ile
- rs763797654
- gnomAD 21-34370616-C-CA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.508
- CADD 25.70
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available