E141K (p.Glu141Lys) variant of CALM3 (Calmodulin-3)
E141K (p.Glu141Lys) in CALM3 (Calmodulin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Long QT syndrome 1; Long QT syndrome 16. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
E141K (p.Glu141Lys) variant details
- p.Glu141Lys
- rs1599759598
- ClinGen CA406473767
- ClinVar RCV001003484
- ClinVar RCV001860538
- Pathogenic
- Long QT syndrome 1; Long QT syndrome 16
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- AlphaMissense 0.98
- MetaLR 0.63
- MetaSVM 0.36
- MutPred 0.73
- ClinVar: Pathogenic (Long QT syndrome 1; Long QT syndrome 16)
- EBI: Pathogenic (in LQT16)
- UniProt: Pathogenic (in LQT16)
- Structural context available
- Cited in: Genetic Mosaicism in Calmodulinopathy. (PMID 31454269)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)