V81F (p.Val81Phe) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
V81F (p.Val81Phe) 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 Cardiovascular phenotype; Hypertrophic cardiomyopathy; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
V81F (p.Val81Phe) variant details
- p.Val81Phe
- rs999833111
- ClinGen CA221708602
- ClinVar RCV001182750
- ClinVar RCV001297131
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.23
- ESM-1b 1.00
- AlphaMissense 0.80
- CADD 25.00
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy; Cardiomyo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)