R69P (p.Arg69Pro) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
R69P (p.Arg69Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
R69P (p.Arg69Pro) variant details
- p.Arg69Pro
- rs397515945
- ClinGen CA380341718
- ClinVar RCV002922943
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- ESM-1b 1.00
- AlphaMissense 0.69
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available