I49M (p.Ile49Met) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
I49M (p.Ile49Met) in MYBPC3 (Myosin-binding protein C, cardiac-type) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
I49M (p.Ile49Met) variant details
- p.Ile49Met
- rs774273586
- ClinGen CA221708845
- ClinVar RCV001189866
- ClinVar RCV005093993
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- ESM-1b 1.00
- AlphaMissense 0.53
- ClinVar: Uncertain significance (Cardiomyopathy; Hypertrophic cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- 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)