L69P (p.Leu69Pro) variant of KCNH2 (hERG)
L69P (p.Leu69Pro) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Long QT syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes experimental measurements, published literature, and structural context.
L69P (p.Leu69Pro) variant details
- p.Leu69Pro
- rs199473665
- ClinGen CA006187
- ClinVar RCV000058078
- ClinVar RCV002470746
- Pathogenic
- Long QT syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.978
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.93
- ClinVar: Pathogenic (Long QT syndrome 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 0
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)