P72S (p.Pro72Ser) variant of KCNH2 (hERG)
P72S (p.Pro72Ser) 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 0.82 / 1. The record also includes experimental measurements, published literature, and structural context.
P72S (p.Pro72Ser) variant details
- p.Pro72Ser
- rs794728411
- ClinGen CA006286
- ClinVar RCV000181936
- ClinVar RCV002516850
- Conflicting interpretations
- KCNH2-related disorder; not provided; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- ESM-1b 1.00
- AlphaMissense 0.42
- MetaLR 0.98
- MetaSVM 1.07
- CADD 29.80
- PolyPhen-2 0.37
- ClinVar: Conflicting classifications of pathogenicity (KCNH2-related disorder; not provided; Long QT syndrome)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 0
- 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)