Y100C (p.Tyr100Cys) variant of CALM2 (Calmodulin-2)
Y100C (p.Tyr100Cys) 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; Long QT syndrome 15. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
Y100C (p.Tyr100Cys) variant details
- p.Tyr100Cys
- rs1573214341
- ClinGen CA346719278
- ClinVar RCV001909631
- Ensembl rs1573214341
- Uncertain significance
- Long QT syndrome 1; Long QT syndrome 15
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.72
- MetaLR 0.53
- MetaSVM 0.14
- CADD 30.00
- PolyPhen-2 0.66
- SIFT 0.00
- ClinVar: Uncertain significance (Long QT syndrome 1; Long QT syndrome 15)
- 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)