G133S (p.Gly133Ser) variant of CALM2 (Calmodulin-2)
G133S (p.Gly133Ser) in CALM2 (Calmodulin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Long QT syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
G133S (p.Gly133Ser) variant details
- p.Gly133Ser
- rs2103823599
- ClinGen CA346719046
- ClinVar RCV002242878
- Ensembl rs2103823599
- Likely pathogenic
- Long QT syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- AlphaMissense 0.56
- MetaLR 0.58
- MetaSVM 0.21
- SIFT 0.00
- MutPred 0.73
- ClinVar: Likely pathogenic (Long QT syndrome 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)