S660L (p.Ser660Leu) variant of KCNH2 (hERG)
S660L (p.Ser660Leu) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiac arrhythmia; KCNH2-related disorder; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S660L (p.Ser660Leu) variant details
- p.Ser660Leu
- rs199472979
- ClinGen CA006139
- ClinVar RCV000058072
- ClinVar RCV000181833
- Pathogenic/Likely pathogenic
- Cardiac arrhythmia; KCNH2-related disorder; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.94
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Pathogenic/Likely 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 101
- Cited in: Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical… (PMID 16414944)
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)