G114R (p.Gly114Arg) variant of CALM2 (Calmodulin-2)
G114R (p.Gly114Arg) in CALM2 (Calmodulin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of SUDDEN INFANT DEATH SYNDROME. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
G114R (p.Gly114Arg) variant details
- p.Gly114Arg
- rs2103823712
- ClinGen CA346719185
- ClinVar RCV001787705
- Ensembl rs2103823712
- Pathogenic
- SUDDEN INFANT DEATH SYNDROME
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- AlphaMissense 1.00
- MetaLR 0.35
- MetaSVM -0.33
- SIFT 0.00
- MutPred 0.77
- ClinVar: Pathogenic (SUDDEN INFANT DEATH SYNDROME)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)