C52* (p.Cys52Ter) variant of KCNH2 (hERG)
C52* (p.Cys52Ter) 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 0.35 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C52* (p.Cys52Ter) variant details
- p.Cys52Ter
- rs754921704
- ClinGen CA004804
- ClinVar RCV001236747
- ExAC rs754921704
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.348
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 69.4
- 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)