S55* (p.Ser55Ter) variant of KCNH2 (hERG)
S55* (p.Ser55Ter) in KCNH2 (hERG) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in LQT2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes experimental measurements, published literature, and structural context.
S55* (p.Ser55Ter) variant details
- p.Ser55Ter
- rs199472844
- ClinGen CA16618417
- ClinVar RCV000484322
- ClinVar RCV001239959
- Pathogenic
- in LQT2
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.818
- AlphaMissense 0.59
- MetaLR 0.98
- MetaSVM 1.06
- CADD 31.00
- PolyPhen-2 0.38
- SIFT 0.00
- EBI: Pathogenic (in LQT2)
- UniProt: 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: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)