F14L (p.Phe14Leu) variant of VPS13C (Q709C8)
F14L (p.Phe14Leu) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
F14L (p.Phe14Leu) variant details
- p.Phe14Leu
- ExAC rs759466986
- TOPMed rs759466986
- gnomAD rs759466986
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.60
- ESM-1b 0.60
- AlphaMissense 0.96
- MetaLR 0.61
- MetaSVM 0.29
- CADD 24.30
- Most common in the South Asian population (allele frequency 0.00011)
- Structural context available