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 0.85 / 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 0.849
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.06
- CADD 32.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Long QT syndrome)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: 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)