W71L (p.Trp71Leu) variant of VPS13C (Q709C8)
W71L (p.Trp71Leu) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes structural context.
W71L (p.Trp71Leu) variant details
- p.Trp71Leu
- TOPMed rs1464416526
- gnomAD rs1464416526
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.84
- MetaLR 0.82
- MetaSVM 0.82
- CADD 29.10
- Structural context available