G56D (p.Gly56Asp) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
G56D (p.Gly56Asp) 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 0.09 / 1. The record also includes structural context.
G56D (p.Gly56Asp) variant details
- p.Gly56Asp
- NCI-TCGA TCGA novel
- Ensembl rs2142869589
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0915
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.27
- SIFT 0.40
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available