P63H (p.Pro63His) variant of KCNH2 (hERG)
P63H (p.Pro63His) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P63H (p.Pro63His) variant details
- p.Pro63His
- rs766379103
- ClinGen CA005881
- ClinVar RCV000181932
- ClinVar RCV000631676
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.88
- MetaLR 0.98
- MetaSVM 1.05
- CADD 32.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Long QT syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)