R107C (p.Arg107Cys) variant of CALM3 (Calmodulin-3)
R107C (p.Arg107Cys) in CALM3 (Calmodulin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Long QT syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 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
- not provided; Long QT syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.89
- MetaLR 0.78
- MetaSVM 0.74
- CADD 24.30
- PolyPhen-2 0.01
- SIFT 0.44
- ClinVar: Uncertain significance (not provided; Long QT syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-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)