E32Q (p.Glu32Gln) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
E32Q (p.Glu32Gln) 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 0.45 / 1. The record also includes population frequency data and structural context.
E32Q (p.Glu32Gln) variant details
- p.Glu32Gln
- rs730880575
- ClinGen CA057616
- ClinVar RCV002734775
- ClinVar RCV004983097
- Uncertain significance
- Hypertrophic cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.29
- ESM-1b 0.78
- AlphaMissense 0.23
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available