Y47H (p.Tyr47His) variant of KCNE2 (Q9Y6J6)
Y47H (p.Tyr47His) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
Y47H (p.Tyr47His) variant details
- p.Tyr47His
- gnomAD rs1979537731
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.53
- MetaSVM -0.12
- CADD 19.30
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available