Q76L (p.Gln76Leu) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
Q76L (p.Gln76Leu) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes structural context.
Q76L (p.Gln76Leu) variant details
- p.Gln76Leu
- rs2495785929
- ClinGen CA380341676
- ClinVar RCV004015108
- ClinVar RCV004987167
- Uncertain significance
- Hypertrophic cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- ESM-1b 1.00
- AlphaMissense 0.43
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available