A94E (p.Ala94Glu) variant of VPS13C (Q709C8)
A94E (p.Ala94Glu) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
A94E (p.Ala94Glu) variant details
- p.Ala94Glu
- ExAC rs773959745
- gnomAD rs773959745
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.31
- MetaLR 0.56
- MetaSVM 0.25
- CADD 31.00
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available