L27M (p.Leu27Met) variant of VPS13C (Q709C8)
L27M (p.Leu27Met) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
L27M (p.Leu27Met) variant details
- p.Leu27Met
- ExAC rs776636452
- gnomAD rs776636452
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.67
- MetaLR 0.81
- MetaSVM 0.77
- CADD 26.10
- Population evidence available
- Structural context available