F46L (p.Phe46Leu) variant of MYL3 (Myosin light chain 3)
F46L (p.Phe46Leu) 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 Cardiovascular phenotype; not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
F46L (p.Phe46Leu) variant details
- p.Phe46Leu
- rs730880953
- ClinGen CA013547
- ClinVar RCV000158936
- ClinVar RCV001056549
- Uncertain significance
- Cardiovascular phenotype; not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.36
- CADD 26.70
- PolyPhen-2 0.03
- SIFT 0.07
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)