S55L (p.Ser55Leu) variant of KCNH2 (hERG)
S55L (p.Ser55Leu) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S55L (p.Ser55Leu) variant details
- p.Ser55Leu
- rs199472844
- ClinGen CA004951
- ClinVar RCV000057933
- ClinVar RCV000182049
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.59
- MetaLR 0.98
- MetaSVM 1.06
- CADD 31.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Long QT syndrome)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 0
- Cited in: Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic… (PMID 15840476)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)