D39A (p.Asp39Ala) variant of VPS13C (Q709C8)
D39A (p.Asp39Ala) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
D39A (p.Asp39Ala) variant details
- p.Asp39Ala
- ExAC rs764210128
- TOPMed rs764210128
- gnomAD rs764210128
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.42
- ESM-1b 0.55
- AlphaMissense 0.23
- MetaLR 0.37
- MetaSVM -0.28
- CADD 24.30
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available