G16V (p.Gly16Val) variant of VPS13C (Q709C8)
G16V (p.Gly16Val) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes structural context.
G16V (p.Gly16Val) variant details
- p.Gly16Val
- Ensembl rs979542113
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.83
- MetaSVM 0.92
- CADD 26.50
- Structural context available