E34Q (p.Glu34Gln) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
E34Q (p.Glu34Gln) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes structural context.
E34Q (p.Glu34Gln) variant details
- p.Glu34Gln
- rs2095900924
- ClinGen CA380341928
- ClinVar RCV003301256
- ClinVar RCV005102716
- Uncertain significance
- Hypertrophic cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- ESM-1b 0.00
- AlphaMissense 0.23
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available