G150E (p.Gly150Glu) variant of VPS13C (Q709C8)
G150E (p.Gly150Glu) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G150E (p.Gly150Glu) variant details
- p.Gly150Glu
- ExAC rs777553310
- gnomAD rs777553310
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.46
- MetaLR 0.14
- MetaSVM -0.87
- CADD 27.70
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available