V38G (p.Val38Gly) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
V38G (p.Val38Gly) 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 0.61 / 1. The record also includes structural context.
V38G (p.Val38Gly) variant details
- p.Val38Gly
- rs1595850711
- ClinGen CA380341902
- ClinVar RCV001986269
- Ensembl rs1595850711
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- ESM-1b 0.77
- AlphaMissense 0.28
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available