V19E (p.Val19Glu) variant of VPS13C (Q709C8)
V19E (p.Val19Glu) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
V19E (p.Val19Glu) variant details
- p.Val19Glu
- Ensembl rs1596552971
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.80
- MetaSVM 0.81
- CADD 28.90
- Structural context available