S818L (p.Ser818Leu) variant of KCNH2 (hERG)
S818L (p.Ser818Leu) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiovascular phenotype; Cardiac arrhythmia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S818L (p.Ser818Leu) variant details
- p.Ser818Leu
- rs121912510
- ClinGen CA006763
- ClinVar RCV000015513
- ClinVar RCV000058123
- Pathogenic
- Cardiovascular phenotype; Cardiac arrhythmia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- REVEL 0.97
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (Cardiovascular phenotype; Cardiac arrhythmia; not provided)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Population evidence available
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 0
- Cited in: C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence. (PMID 10086971)
- Cited in: Characterization of S818L mutation in HERG C-terminus in LQT2. Modification of activation-deactivation gating… (PMID 10996323)