D109G (p.Asp109Gly) variant of VPS13C (Q709C8)
D109G (p.Asp109Gly) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
D109G (p.Asp109Gly) variant details
- p.Asp109Gly
- ESP rs373013958
- ExAC rs373013958
- TOPMed rs373013958
- gnomAD rs373013958
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.48
- ESM-1b 0.79
- AlphaMissense 0.14
- MetaLR 0.44
- MetaSVM -0.21
- CADD 25.10
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available