E12D (p.Glu12Asp) variant of KCNE2 (Q9Y6J6)
E12D (p.Glu12Asp) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Long QT syndrome 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E12D (p.Glu12Asp) variant details
- p.Glu12Asp
- rs754523450
- NCI-TCGA Cosmic COSV5171
- ExAC rs754523450
- gnomAD rs754523450
- Uncertain significance
- Long QT syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.57
- ESM-1b 0.00
- AlphaMissense 0.59
- MetaLR 0.75
- MetaSVM 0.62
- CADD 22.50
- ClinVar: Uncertain significance (Long QT syndrome 6)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available