L139S (p.Leu139Ser) variant of VPS13C (Q709C8)
L139S (p.Leu139Ser) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes structural context.
L139S (p.Leu139Ser) variant details
- p.Leu139Ser
- TOPMed rs1185461122
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.78
- MetaLR 0.19
- MetaSVM -0.72
- CADD 26.30
- Structural context available