G33C (p.Gly33Cys) variant of VPS13C (Q709C8)
G33C (p.Gly33Cys) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
G33C (p.Gly33Cys) variant details
- p.Gly33Cys
- TOPMed rs2048957671
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.83
- MetaLR 0.75
- MetaSVM 0.65
- CADD 34.00
- Structural context available