E119D (p.Glu119Asp) variant of VPS13C (Q709C8)
E119D (p.Glu119Asp) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E119D (p.Glu119Asp) variant details
- p.Glu119Asp
- ExAC rs765958790
- TOPMed rs765958790
- gnomAD rs765958790
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.30
- ESM-1b 0.27
- AlphaMissense 0.42
- MetaLR 0.46
- MetaSVM -0.14
- CADD 23.80
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available