A80G (p.Ala80Gly) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
A80G (p.Ala80Gly) 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 0.45 / 1. The record also includes population frequency data and structural context.
A80G (p.Ala80Gly) variant details
- p.Ala80Gly
- rs1410583905
- ClinGen CA380341640
- ClinVar RCV000700176
- TOPMed rs1410583905
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.34
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available