A57V (p.Ala57Val) variant of KCNH2 (hERG)
A57V (p.Ala57Val) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of KCNH2-related disorder; not provided; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes experimental measurements, published literature, and structural context.
A57V (p.Ala57Val) variant details
- p.Ala57Val
- rs794728493
- ClinGen CA005221
- ClinVar RCV000182050
- ClinVar RCV001852297
- Conflicting interpretations
- KCNH2-related disorder; not provided; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- ESM-1b 0.00
- AlphaMissense 0.38
- MetaLR 0.97
- MetaSVM 1.14
- CADD 25.10
- PolyPhen-2 0.62
- ClinVar: Conflicting classifications of pathogenicity (KCNH2-related disorder; not provided; Long QT syndrome)
- EBI: Likely pathogenic (in LQT2)
- UniProt: Likely pathogenic (in LQT2)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 81.5
- 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)