K28* (p.Lys28Ter) variant of KCNH2 (hERG)
K28* (p.Lys28Ter) in KCNH2 (hERG) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K28* (p.Lys28Ter) variant details
- p.Lys28Ter
- rs794728475
- ClinGen CA305341
- ClinVar RCV000182015
- ClinVar RCV001064849
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.676
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- KCNH2 MAVE Trafficking Scores: 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)