A36E (p.Ala36Glu) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
A36E (p.Ala36Glu) 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 Hypertrophic cardiomyopathy; Cardiomyopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A36E (p.Ala36Glu) variant details
- p.Ala36Glu
- rs376646845
- ClinGen CA042282
- ClinVar RCV001178622
- ClinVar RCV001216981
- Uncertain significance
- Hypertrophic cardiomyopathy; Cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.21
- CADD 21.00
- PolyPhen-2 0.08
- SIFT 0.06
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; Cardiomyopathy; Cardiovascular phen)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)