M1V (p.Met1Val) variant of MYL3 (Myosin light chain 3)
M1V (p.Met1Val) 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 variant effect predictions, population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs760875293
- ClinGen CA043090
- ClinVar RCV003532752
- ClinVar RCV004011515
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- MetaLR 0.51
- MetaSVM -0.55
- PolyPhen-2 0.45
- SIFT 0.00
- MutPred 0.56
- ClinVar: Uncertain significance (Cardiomyopathy; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)