L60V (p.Leu60Val) variant of MYL3 (Myosin light chain 3)
L60V (p.Leu60Val) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
L60V (p.Leu60Val) variant details
- p.Leu60Val
- rs1367233580
- ClinGen CA352498602
- ClinVar RCV001184606
- ClinVar RCV003586284
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.74
- CADD 24.00
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiomyopathy; Hypertrophic cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)