Y47S (p.Tyr47Ser) variant of KCNE2 (Q9Y6J6)
Y47S (p.Tyr47Ser) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
Y47S (p.Tyr47Ser) variant details
- p.Tyr47Ser
- ExAC rs757779830
- gnomAD rs757779830
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.46
- MetaSVM -0.34
- CADD 20.80
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available