L86V (p.Leu86Val) variant of VPS13C (Q709C8)
L86V (p.Leu86Val) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes structural context.
L86V (p.Leu86Val) variant details
- p.Leu86Val
- TOPMed rs1174458052
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.32
- MetaSVM -0.56
- CADD 21.10
- Structural context available