K28N (p.Lys28Asn) variant of KCNH2 (hERG)
K28N (p.Lys28Asn) in KCNH2 (hERG) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K28N (p.Lys28Asn) variant details
- p.Lys28Asn
- rs1584883517
- ClinGen CA915945560
- ClinVar RCV000799458
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.62
- ESM-1b 1.00
- AlphaMissense 0.66
- MetaLR 0.88
- MetaSVM 0.89
- CADD 28.50
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)