D63E (p.Asp63Glu) variant of VPS13C (Q709C8)
D63E (p.Asp63Glu) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes structural context.
D63E (p.Asp63Glu) variant details
- p.Asp63Glu
- TOPMed rs1255015560
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.20
- MetaLR 0.30
- MetaSVM -0.45
- CADD 22.90
- Structural context available