L48R (p.Leu48Arg) variant of VPS13C (Q709C8)
L48R (p.Leu48Arg) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
L48R (p.Leu48Arg) variant details
- p.Leu48Arg
- ExAC rs765573936
- gnomAD rs765573936
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.87
- MetaSVM 1.00
- CADD 32.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00018)
- Structural context available