L41I (p.Leu41Ile) variant of VPS13C (Q709C8)
L41I (p.Leu41Ile) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
L41I (p.Leu41Ile) variant details
- p.Leu41Ile
- ExAC rs186009000
- TOPMed rs186009000
- gnomAD rs186009000
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.61
- ESM-1b 1.00
- AlphaMissense 0.52
- MetaLR 0.82
- MetaSVM 0.76
- CADD 26.70
- Population evidence available
- Structural context available