E83K (p.Glu83Lys) variant of CALM2 (Calmodulin-2)
E83K (p.Glu83Lys) in CALM2 (Calmodulin-2) 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 0.69 / 1. The record also includes published literature and structural context.
E83K (p.Glu83Lys) variant details
- p.Glu83Lys
- rs1687185703
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10081
- ClinGen CA346719412
- Uncertain significance
- Long QT syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- AlphaMissense 0.86
- MetaLR 0.71
- MetaSVM 0.51
- SIFT 0.02
- MutPred 0.41
- ClinVar: Uncertain significance (Long QT syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)