N12H (p.Asn12His) variant of VPS13C (Q709C8)
N12H (p.Asn12His) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
N12H (p.Asn12His) variant details
- p.Asn12His
- TOPMed rs1363797251
- gnomAD rs1363797251
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.70
- ESM-1b 1.00
- AlphaMissense 0.78
- MetaLR 0.79
- MetaSVM 0.78
- CADD 26.30
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available