A8T (p.Ala8Thr) variant of VPS13C (Q709C8)
A8T (p.Ala8Thr) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- ExAC rs763824886
- gnomAD rs763824886
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.60
- MetaLR 0.46
- MetaSVM -0.03
- CADD 24.90
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available