L86R (p.Leu86Arg) variant of KCNH2 (hERG)
L86R (p.Leu86Arg) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Short QT syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes experimental measurements, published literature, and structural context.
L86R (p.Leu86Arg) variant details
- p.Leu86Arg
- rs199472851
- ClinGen CA006969
- ClinVar RCV000058138
- ClinVar RCV002247458
- Pathogenic
- Short QT syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.12
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.93
- ClinVar: Pathogenic (Short QT syndrome type 1)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 0
- Cited in: Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel… (PMID 10187793)
- Cited in: C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence. (PMID 10086971)