A78G (p.Ala78Gly) variant of VPS13C (Q709C8)
A78G (p.Ala78Gly) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
A78G (p.Ala78Gly) variant details
- p.Ala78Gly
- ExAC rs747967361
- gnomAD rs747967361
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.37
- MetaLR 0.70
- MetaSVM 0.46
- CADD 27.70
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available