L107F (p.Leu107Phe) variant of VPS13C (Q709C8)
L107F (p.Leu107Phe) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
L107F (p.Leu107Phe) variant details
- p.Leu107Phe
- gnomAD rs1451733484
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.45
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.57
- MetaSVM 0.05
- CADD 22.40
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available