E140G (p.Glu140Gly) variant of VPS13C (Q709C8)
E140G (p.Glu140Gly) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
E140G (p.Glu140Gly) variant details
- p.Glu140Gly
- ExAC rs781531576
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.30
- MetaLR 0.15
- MetaSVM -0.85
- CADD 27.10
- Structural context available