V19G (p.Val19Gly) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
V19G (p.Val19Gly) 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 0.71 / 1. The record also includes structural context.
V19G (p.Val19Gly) variant details
- p.Val19Gly
- rs1247917628
- ClinGen CA380342014
- ClinVar RCV001061006
- gnomAD rs1247917628
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- ESM-1b 1.00
- AlphaMissense 0.35
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available