R77Q (p.Arg77Gln) variant of KCNE2 (Q9Y6J6)
R77Q (p.Arg77Gln) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Long QT syndrome; Long QT syndrome 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R77Q (p.Arg77Gln) variant details
- p.Arg77Gln
- rs199473365
- ClinGen CA211464
- ClinVar RCV000058369
- ClinVar RCV000148523
- Conflicting interpretations
- Cardiovascular phenotype; Long QT syndrome; Long QT syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.55
- MetaSVM -0.63
- CADD 3.73
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Long QT syndrome; Long QT syndrome 6)
- EBI: Likely benign (in LQT6)
- UniProt: Likely benign (in LQT6)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)