K28R (p.Lys28Arg) variant of KCNH2 (hERG)
K28R (p.Lys28Arg) 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 0.59 / 1. The record also includes experimental measurements, published literature, and structural context.
K28R (p.Lys28Arg) variant details
- p.Lys28Arg
- rs2486157311
- ClinGen CA369866034
- ClinVar RCV004012502
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- ESM-1b 1.00
- AlphaMissense 0.11
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 76.9
- 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)