R151C (p.Arg151Cys) variant of VPS13C (Q709C8)
R151C (p.Arg151Cys) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R151C (p.Arg151Cys) variant details
- p.Arg151Cys
- cosmic curated COSV51138
- ExAC rs755752127
- TOPMed rs755752127
- gnomAD rs755752127
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.18
- ESM-1b 0.31
- AlphaMissense 0.25
- MetaLR 0.15
- MetaSVM -0.85
- CADD 32.00
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available