V101E (p.Val101Glu) variant of VPS13C (Q709C8)
V101E (p.Val101Glu) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes structural context.
V101E (p.Val101Glu) variant details
- p.Val101Glu
- Ensembl rs2140649952
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.04
- MetaLR 0.07
- MetaSVM -0.91
- CADD 18.19
- Structural context available