L41V (p.Leu41Val) variant of VPS13C (Q709C8)
L41V (p.Leu41Val) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
L41V (p.Leu41Val) variant details
- p.Leu41Val
- ExAC rs186009000
- TOPMed rs186009000
- gnomAD rs186009000
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.63
- ESM-1b 1.00
- AlphaMissense 0.66
- MetaLR 0.77
- MetaSVM 0.65
- CADD 25.70
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available