E30Q (p.Glu30Gln) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
E30Q (p.Glu30Gln) 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 0.49 / 1. The record also includes population frequency data and structural context.
E30Q (p.Glu30Gln) variant details
- p.Glu30Gln
- rs761079937
- ClinGen CA380341952
- ClinVar RCV004016348
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.30
- ESM-1b 0.51
- AlphaMissense 0.23
- CADD 25.30
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available