E105K (p.Glu105Lys) variant of CALM3 (Calmodulin-3)
E105K (p.Glu105Lys) 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 0.69 / 1. The record also includes structural context.
E105K (p.Glu105Lys) variant details
- p.Glu105Lys
- rs1057523130
- ClinGen CA16606883
- ClinVar RCV000442999
- Ensembl rs1057523130
- Pathogenic
- Long QT syndrome 1; Long QT syndrome 16
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- AlphaMissense 0.98
- MetaLR 0.65
- MetaSVM 0.40
- PolyPhen-2 0.97
- MutPred 0.73
- ClinVar: Pathogenic (Long QT syndrome 1; Long QT syndrome 16)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available