G133E (p.Gly133Glu) variant of VPS13C (Q709C8)
G133E (p.Gly133Glu) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes structural context.
G133E (p.Gly133Glu) variant details
- p.Gly133Glu
- gnomAD rs1458371183
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.11
- MetaSVM -1.01
- CADD 31.00
- Structural context available