C52A (p.Cys52Ala) variant of KCNH2 (hERG)
C52A (p.Cys52Ala) 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 0.21 / 1. The record also includes experimental measurements, published literature, and structural context.
C52A (p.Cys52Ala) variant details
- p.Cys52Ala
- rs794728508
- ClinGen CA004782
- ClinVar RCV000796540
- ClinVar RCV001842865
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- ESM-1b 0.00
- AlphaMissense 0.69
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: 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)