I67M (p.Ile67Met) variant of KCNE2 (Q9Y6J6)
I67M (p.Ile67Met) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Long QT syndrome 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
I67M (p.Ile67Met) variant details
- p.Ile67Met
- rs2516741027
- ClinGen CA410196646
- ClinVar RCV003176526
- ClinVar RCV006473771
- Uncertain significance
- Cardiovascular phenotype; Long QT syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.63
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.84
- MetaSVM 0.88
- CADD 22.60
- ClinVar: Uncertain significance (Cardiovascular phenotype; Long QT syndrome 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)