D9Y (p.Asp9Tyr) variant of VPS13C (Q709C8)
D9Y (p.Asp9Tyr) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
D9Y (p.Asp9Tyr) variant details
- p.Asp9Tyr
- TOPMed rs2048962874
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.65
- ESM-1b 0.82
- AlphaMissense 0.77
- MetaLR 0.64
- MetaSVM 0.37
- CADD 28.60
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available