A8V (p.Ala8Val) variant of VPS13C (Q709C8)
A8V (p.Ala8Val) in VPS13C (Q709C8) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- rs760327607
- ExAC rs760327607
- TOPMed rs760327607
- gnomAD rs760327607
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.66
- MetaLR 0.37
- MetaSVM -0.48
- CADD 24.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 0.00039)
- Structural context available