Y48S (p.Tyr48Ser) variant of KCNE2 (Q9Y6J6)
Y48S (p.Tyr48Ser) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
Y48S (p.Tyr48Ser) variant details
- p.Tyr48Ser
- ExAC rs758863768
- gnomAD rs758863768
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.72
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.78
- MetaSVM 0.64
- CADD 24.60
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available