D9E (p.Asp9Glu) variant of VPS13C (Q709C8)
D9E (p.Asp9Glu) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
D9E (p.Asp9Glu) variant details
- p.Asp9Glu
- gnomAD rs1382516219
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.53
- ESM-1b 1.00
- AlphaMissense 0.48
- MetaLR 0.54
- MetaSVM -0.00
- CADD 23.30
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available