T111M (p.Thr111Met) variant of CALM3 (Calmodulin-3)
T111M (p.Thr111Met) in CALM3 (Calmodulin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
T111M (p.Thr111Met) variant details
- p.Thr111Met
- rs764512871
- ClinGen CA9529823
- ClinVar RCV003608438
- ClinVar RCV006272523
- Uncertain significance
- Long QT syndrome 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.39
- MetaLR 0.37
- MetaSVM -0.26
- CADD 24.30
- PolyPhen-2 0.16
- SIFT 0.00
- ClinVar: Uncertain significance (Long QT syndrome 1; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)