Q108R (p.Gln108Arg) variant of VPS13C (Q709C8)
Q108R (p.Gln108Arg) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
Q108R (p.Gln108Arg) variant details
- p.Gln108Arg
- ExAC rs768625162
- gnomAD rs768625162
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.53
- ESM-1b 0.52
- AlphaMissense 0.12
- MetaLR 0.62
- MetaSVM 0.26
- CADD 24.50
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available