R76L (p.Arg76Leu) variant of KCNH2 (hERG)
R76L (p.Arg76Leu) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Cardiac arrhythmia; Long QT syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R76L (p.Arg76Leu) variant details
- p.Arg76Leu
- rs868054429
- ClinGen CA169090320
- ClinVar RCV001841941
- ClinVar RCV002442586
- Uncertain significance
- Cardiovascular phenotype; Cardiac arrhythmia; Long QT syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.50
- CADD 24.00
- PolyPhen-2 0.07
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiac arrhythmia; Long QT syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 105
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)