L139F (p.Leu139Phe) variant of VPS13C (Q709C8)
L139F (p.Leu139Phe) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
L139F (p.Leu139Phe) variant details
- p.Leu139Phe
- ExAC rs748697696
- gnomAD rs748697696
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.28
- MetaLR 0.12
- MetaSVM -0.96
- CADD 24.50
- Most common in the Finnish in Finland (FIN) population (allele frequency 7.6e-05)
- Structural context available