G34A (p.Gly34Ala) variant of VPS13C (Q709C8)
G34A (p.Gly34Ala) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
G34A (p.Gly34Ala) variant details
- p.Gly34Ala
- Ensembl rs2048335516
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.93
- MetaSVM 1.06
- CADD 32.00
- Structural context available