E20D (p.Glu20Asp) variant of VPS13C (Q709C8)
E20D (p.Glu20Asp) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes structural context.
E20D (p.Glu20Asp) variant details
- p.Glu20Asp
- TOPMed rs2048961409
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.32
- ESM-1b 0.68
- AlphaMissense 0.49
- MetaLR 0.47
- MetaSVM -0.24
- CADD 23.40
- Structural context available