A81T (p.Ala81Thr) variant of VPS13C (Q709C8)
A81T (p.Ala81Thr) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
A81T (p.Ala81Thr) variant details
- p.Ala81Thr
- ExAC rs751716596
- TOPMed rs751716596
- gnomAD rs751716596
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.54
- MetaLR 0.78
- MetaSVM 0.74
- CADD 27.10
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available