R63G (p.Arg63Gly) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
R63G (p.Arg63Gly) 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 0.75 / 1. The record also includes structural context.
R63G (p.Arg63Gly) variant details
- p.Arg63Gly
- rs373315466
- ClinGen CA380341753
- ClinVar RCV001993985
- 1000Genomes rs373315466
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- ESM-1b 1.00
- AlphaMissense 0.45
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available