A59S (p.Ala59Ser) variant of VPS13C (Q709C8)
A59S (p.Ala59Ser) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
A59S (p.Ala59Ser) variant details
- p.Ala59Ser
- ExAC rs771622572
- TOPMed rs771622572
- gnomAD rs771622572
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.40
- ESM-1b 1.00
- AlphaMissense 0.14
- MetaLR 0.43
- MetaSVM -0.10
- CADD 23.90
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available