S26I (p.Ser26Ile) variant of KCNH2 (hERG)
S26I (p.Ser26Ile) in KCNH2 (hERG) is a missense change. The available record places it in the context of Congenital long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S26I (p.Ser26Ile) variant details
- p.Ser26Ile
- rs199472827
- ClinGen CA008810
- ClinVar RCV000058257
- UniProt VAR 068249
- not provided
- Congenital long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.71
- CADD 28.60
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: not provided (Congenital long QT syndrome)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Population evidence available
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 86.2
- Cited in: Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic… (PMID 15840476)
- Cited in: C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence. (PMID 10086971)