L552S (p.Leu552Ser) variant of KCNH2 (hERG)
L552S (p.Leu552Ser) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiac arrhythmia; KCNH2-related disorder; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L552S (p.Leu552Ser) variant details
- p.Leu552Ser
- rs199472918
- ClinGen CA004960
- NCI-TCGA Cosmic COSV5122
- cosmic curated COSV51226
- Pathogenic
- Cardiac arrhythmia; KCNH2-related disorder; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.95
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Cardiac arrhythmia; KCNH2-related disorder; Cardiovascular pheno)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Population evidence available
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 64.7
- Cited in: Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic… (PMID 15840476)
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)