E45D (p.Glu45Asp) variant of VPS13C (Q709C8)
E45D (p.Glu45Asp) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes structural context.
E45D (p.Glu45Asp) variant details
- p.Glu45Asp
- Ensembl rs2048333931
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.47
- ESM-1b 1.00
- AlphaMissense 0.32
- MetaLR 0.64
- MetaSVM 0.23
- CADD 25.30
- Structural context available