A59P (p.Ala59Pro) variant of VPS13C (Q709C8)
A59P (p.Ala59Pro) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
A59P (p.Ala59Pro) variant details
- p.Ala59Pro
- ExAC rs771622572
- TOPMed rs771622572
- gnomAD rs771622572
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.75
- MetaSVM 0.66
- CADD 24.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available