C49F (p.Cys49Phe) variant of KCNH2 (hERG)
C49F (p.Cys49Phe) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Long QT syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes experimental measurements, published literature, and structural context.
C49F (p.Cys49Phe) variant details
- p.Cys49Phe
- rs199472840
- ClinGen CA369865805
- ClinVar RCV001248797
- Ensembl rs199472840
- Likely pathogenic
- Long QT syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.07
- CADD 30.00
- PolyPhen-2 0.43
- ClinVar: Likely pathogenic (Long QT syndrome 2)
- EBI: Likely pathogenic (in LQT2)
- UniProt: Likely pathogenic (in LQT2)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 0
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)