I42F (p.Ile42Phe) variant of MYL3 (Myosin light chain 3)
I42F (p.Ile42Phe) 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 Hypertrophic cardiomyopathy; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
I42F (p.Ile42Phe) variant details
- p.Ile42Phe
- rs1322033572
- ClinGen CA352499475
- NCI-TCGA Cosmic COSV5276
- cosmic curated COSV52767
- Uncertain significance
- Hypertrophic cardiomyopathy; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.41
- CADD 17.50
- PolyPhen-2 0.04
- SIFT 0.04
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)