R56L (p.Arg56Leu) variant of KCNH2 (hERG)
R56L (p.Arg56Leu) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R56L (p.Arg56Leu) variant details
- p.Arg56Leu
- rs199472845
- ClinGen CA005012
- ClinVar RCV000181931
- ClinVar RCV000461590
- Pathogenic/Likely pathogenic
- not provided; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.81
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.06
- CADD 28.30
- PolyPhen-2 0.37
- ClinVar: Pathogenic/Likely pathogenic (not provided; Long QT syndrome)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 31.6
- 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)