S25C (p.Ser25Cys) variant of VPS13C (Q709C8)
S25C (p.Ser25Cys) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
S25C (p.Ser25Cys) variant details
- p.Ser25Cys
- ExAC rs770003349
- TOPMed rs770003349
- gnomAD rs770003349
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.46
- MetaLR 0.76
- MetaSVM 0.70
- CADD 29.90
- Most common in the South Asian population (allele frequency 8.2e-05)
- Structural context available