D146G (p.Asp146Gly) variant of VPS13C (Q709C8)
D146G (p.Asp146Gly) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
D146G (p.Asp146Gly) variant details
- p.Asp146Gly
- TOPMed rs1347461520
- gnomAD rs1347461520
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.07
- MetaSVM -1.04
- CADD 24.60
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available