D39N (p.Asp39Asn) variant of VPS13C (Q709C8)
D39N (p.Asp39Asn) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
D39N (p.Asp39Asn) variant details
- p.Asp39Asn
- ExAC rs754108368
- TOPMed rs754108368
- gnomAD rs754108368
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.35
- MetaSVM -0.03
- CADD 26.80
- Most common in the Non-Finnish European population (allele frequency 3e-06)
- Structural context available