D39H (p.Asp39His) variant of VPS13C (Q709C8)
D39H (p.Asp39His) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
D39H (p.Asp39His) variant details
- p.Asp39His
- ExAC rs754108368
- TOPMed rs754108368
- gnomAD rs754108368
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.47
- ESM-1b 0.49
- AlphaMissense 0.26
- MetaLR 0.44
- MetaSVM 0.15
- CADD 26.80
- Population evidence available
- Structural context available