R107C (p.Arg107Cys) variant of CALM2 (Calmodulin-2)
R107C (p.Arg107Cys) in CALM2 (Calmodulin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Long QT syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R107C (p.Arg107Cys) variant details
- p.Arg107Cys
- rs1599759441
- ClinGen CA406473067
- NCI-TCGA Cosmic COSV5219
- cosmic curated COSV52194
- Uncertain significance
- Cardiovascular phenotype; Long QT syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.93
- MetaLR 0.78
- MetaSVM 0.68
- CADD 25.00
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Long QT syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)