W71S (p.Trp71Ser) variant of VPS13C (Q709C8)
W71S (p.Trp71Ser) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
W71S (p.Trp71Ser) variant details
- p.Trp71Ser
- TOPMed rs1464416526
- gnomAD rs1464416526
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.88
- MetaSVM 0.99
- CADD 30.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available