I49F (p.Ile49Phe) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
I49F (p.Ile49Phe) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
I49F (p.Ile49Phe) variant details
- p.Ile49Phe
- rs760058908
- ClinGen CA045280
- ClinVar RCV000770385
- ClinVar RCV004807130
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.54
- ESM-1b 1.00
- AlphaMissense 0.65
- CADD 22.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiomyopathy; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)