V68M (p.Val68Met) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
V68M (p.Val68Met) 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
V68M (p.Val68Met) variant details
- p.Val68Met
- rs1199851911
- ClinGen CA380341726
- ClinVar RCV000770383
- ClinVar RCV001346659
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.35
- ESM-1b 1.00
- AlphaMissense 0.66
- CADD 24.10
- PolyPhen-2 0.87
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiomyopathy; Hypertrophic cardiomyopathy)
- 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)