G60V (p.Gly60Val) variant of VPS13C (Q709C8)
G60V (p.Gly60Val) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
G60V (p.Gly60Val) variant details
- p.Gly60Val
- gnomAD rs1326330133
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.88
- MetaLR 0.88
- MetaSVM 1.02
- CADD 28.10
- Population evidence available
- Structural context available