A23E (p.Ala23Glu) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
A23E (p.Ala23Glu) 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 0.22 / 1. The record also includes population frequency data and structural context.
A23E (p.Ala23Glu) variant details
- p.Ala23Glu
- rs2495786633
- ClinGen CA380341992
- ClinVar RCV002362315
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.25
- CADD 8.68
- PolyPhen-2 0.04
- SIFT 0.61
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available