A8P (p.Ala8Pro) variant of VPS13C (Q709C8)
A8P (p.Ala8Pro) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
A8P (p.Ala8Pro) variant details
- p.Ala8Pro
- ExAC rs763824886
- gnomAD rs763824886
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.69
- MetaSVM 0.49
- CADD 28.50
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available