D39G (p.Asp39Gly) variant of VPS13C (Q709C8)
D39G (p.Asp39Gly) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
D39G (p.Asp39Gly) variant details
- p.Asp39Gly
- ExAC rs764210128
- TOPMed rs764210128
- gnomAD rs764210128
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.45
- ESM-1b 1.00
- AlphaMissense 0.20
- MetaLR 0.44
- MetaSVM -0.15
- CADD 25.30
- Most common in the Latino/Admixed American population (allele frequency 8e-05)
- Structural context available