H79R (p.His79Arg) variant of KCNE2 (Q9Y6J6)
H79R (p.His79Arg) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
H79R (p.His79Arg) variant details
- p.His79Arg
- rs770895197
- ClinGen CA410196767
- ClinVar RCV002457753
- ClinVar RCV003101762
- Uncertain significance
- Cardiovascular phenotype; Long QT syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.46
- ESM-1b 0.00
- AlphaMissense 0.71
- MetaLR 0.72
- MetaSVM 0.37
- CADD 21.90
- ClinVar: Uncertain significance (Cardiovascular phenotype; Long QT syndrome 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)