G93V (p.Gly93Val) variant of VPS13C (Q709C8)
G93V (p.Gly93Val) in VPS13C (Q709C8) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
G93V (p.Gly93Val) variant details
- p.Gly93Val
- rs759149177
- ExAC rs759149177
- gnomAD rs759149177
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.61
- ESM-1b 0.89
- AlphaMissense 0.18
- MetaLR 0.54
- MetaSVM 0.23
- CADD 27.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.0002)
- Structural context available