E124K (p.Glu124Lys) variant of CALM3 (Calmodulin-3)
E124K (p.Glu124Lys) in CALM3 (Calmodulin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
E124K (p.Glu124Lys) variant details
- p.Glu124Lys
- rs2513645822
- ClinGen CA406473384
- ClinVar RCV002785277
- Uncertain significance
- Long QT syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.36
- MetaLR 0.22
- MetaSVM -0.72
- CADD 32.00
- PolyPhen-2 0.80
- SIFT 0.02
- ClinVar: Uncertain significance (Long QT syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- 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)