R56Q (p.Arg56Gln) variant of KCNH2 (hERG)
R56Q (p.Arg56Gln) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes experimental measurements, published literature, and structural context.
R56Q (p.Arg56Gln) variant details
- p.Arg56Gln
- rs199472845
- ClinGen CA005006
- ClinVar RCV000057938
- ClinVar RCV000462413
- Likely pathogenic
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 0.37
- SIFT 0.00
- MutPred 0.59
- ClinVar: Likely pathogenic (Long QT syndrome)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 31.6
- Cited in: Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel… (PMID 10187793)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)