E20G (p.Glu20Gly) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
E20G (p.Glu20Gly) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes structural context.
E20G (p.Glu20Gly) variant details
- p.Glu20Gly
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.28
- ESM-1b 1.00
- AlphaMissense 0.49
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available