G77V (p.Gly77Val) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
G77V (p.Gly77Val) 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; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
G77V (p.Gly77Val) variant details
- p.Gly77Val
- rs730880580
- ClinGen CA380341668
- ClinVar RCV004012936
- ClinVar RCV004987160
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.28
- ESM-1b 1.00
- AlphaMissense 0.92
- CADD 16.90
- PolyPhen-2 0.05
- SIFT 0.61
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available