N12S (p.Asn12Ser) variant of VPS13C (Q709C8)
N12S (p.Asn12Ser) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes structural context.
N12S (p.Asn12Ser) variant details
- p.Asn12Ser
- TOPMed rs1464536325
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.52
- ESM-1b 1.00
- AlphaMissense 0.53
- MetaLR 0.66
- MetaSVM 0.42
- CADD 25.90
- Structural context available