T111M (p.Thr111Met) variant of CALM1 (Calmodulin-1)
T111M (p.Thr111Met) in CALM1 (Calmodulin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 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
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- AlphaMissense 0.82
- MetaLR 0.37
- MetaSVM -0.26
- MutPred 0.59
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)