D39E (p.Asp39Glu) variant of VPS13C (Q709C8)
D39E (p.Asp39Glu) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
D39E (p.Asp39Glu) variant details
- p.Asp39Glu
- TOPMed rs1319003124
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.09
- MetaSVM -0.97
- CADD 17.29
- Most common in the African/African-American population (allele frequency 3.4e-05)
- Structural context available