Q112R (p.Gln112Arg) variant of VPS13C (Q709C8)
Q112R (p.Gln112Arg) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
Q112R (p.Gln112Arg) variant details
- p.Gln112Arg
- ExAC rs745949749
- gnomAD rs745949749
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.44
- ESM-1b 0.16
- AlphaMissense 0.11
- MetaLR 0.53
- MetaSVM 0.07
- CADD 24.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available