N73K (p.Asn73Lys) variant of VPS13C (Q709C8)
N73K (p.Asn73Lys) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
N73K (p.Asn73Lys) variant details
- p.Asn73Lys
- ExAC rs749221725
- TOPMed rs749221725
- gnomAD rs749221725
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.54
- ESM-1b 1.00
- AlphaMissense 0.82
- MetaLR 0.63
- MetaSVM 0.23
- CADD 23.60
- Population evidence available
- Structural context available