G84A (p.Gly84Ala) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
G84A (p.Gly84Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes structural context.
G84A (p.Gly84Ala) variant details
- p.Gly84Ala
- rs569824900
- ClinGen CA380341580
- ClinVar RCV002433036
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- ESM-1b 1.00
- AlphaMissense 0.34
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available