G30D (p.Gly30Asp) variant of VPS13C (Q709C8)
G30D (p.Gly30Asp) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
G30D (p.Gly30Asp) variant details
- p.Gly30Asp
- ExAC rs747511955
- gnomAD rs747511955
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.84
- MetaLR 0.73
- MetaSVM 0.62
- CADD 28.10
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available