A94T (p.Ala94Thr) variant of VPS13C (Q709C8)
A94T (p.Ala94Thr) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
A94T (p.Ala94Thr) variant details
- p.Ala94Thr
- TOPMed rs1321754599
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.52
- MetaSVM 0.17
- CADD 23.90
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available