F68C (p.Phe68Cys) variant of KCNH2 (hERG)
F68C (p.Phe68Cys) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes experimental measurements, published literature, and structural context.
F68C (p.Phe68Cys) variant details
- p.Phe68Cys
- rs1801935420
- ClinGen CA369865625
- ClinVar RCV001209799
- Ensembl rs1801935420
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.976
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.89
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance (in LQT2)
- UniProt: Uncertain significance (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 47.8
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)