G30A (p.Gly30Ala) variant of VPS13C (Q709C8)
G30A (p.Gly30Ala) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
G30A (p.Gly30Ala) variant details
- p.Gly30Ala
- ExAC rs747511955
- gnomAD rs747511955
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.65
- ESM-1b 1.00
- AlphaMissense 0.51
- MetaLR 0.67
- MetaSVM 0.45
- CADD 27.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available