E114D (p.Glu114Asp) variant of VPS13C (Q709C8)
E114D (p.Glu114Asp) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
E114D (p.Glu114Asp) variant details
- p.Glu114Asp
- ExAC rs757250565
- gnomAD rs757250565
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.30
- ESM-1b 0.98
- AlphaMissense 0.22
- MetaLR 0.47
- MetaSVM -0.49
- CADD 15.54
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available