P63L (p.Pro63Leu) variant of KCNH2 (hERG)
P63L (p.Pro63Leu) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes experimental measurements, published literature, and structural context.
P63L (p.Pro63Leu) variant details
- p.Pro63Leu
- rs766379103
- ClinGen CA369865681
- ClinVar RCV001902021
- ExAC rs766379103
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.98
- MetaSVM 1.05
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)