Q76R (p.Gln76Arg) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
Q76R (p.Gln76Arg) 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; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
Q76R (p.Gln76Arg) variant details
- p.Gln76Arg
- rs2495785929
- ClinGen CA380341674
- ClinVar RCV002672181
- Uncertain significance
- Hypertrophic cardiomyopathy; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.20
- CADD 22.70
- PolyPhen-2 0.28
- SIFT 0.29
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available