I42T (p.Ile42Thr) variant of MYL3 (Myosin light chain 3)
I42T (p.Ile42Thr) in MYL3 (Myosin light chain 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy; Hypertrophic cardiomyopathy. The record also includes published literature and structural context.
I42T (p.Ile42Thr) variant details
- p.Ile42Thr
- rs2544971826
- ClinGen CA352499472
- ClinVar RCV004012205
- ClinVar RCV005402121
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- ClinVar: Uncertain significance (Cardiomyopathy; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)