T35I (p.Thr35Ile) variant of CALM2 (Calmodulin-2)
T35I (p.Thr35Ile) in CALM2 (Calmodulin-2) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
T35I (p.Thr35Ile) variant details
- p.Thr35Ile
- rs757523692
- ClinGen CA1648594
- ClinVar RCV002272427
- ClinVar RCV002402782
- Uncertain significance
- not provided; Long QT syndrome 1; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.88
- MetaLR 0.75
- MetaSVM 0.58
- CADD 20.20
- PolyPhen-2 0.07
- SIFT 0.04
- ClinVar: Uncertain significance (not provided; Long QT syndrome 1; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- 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)