V90I (p.Val90Ile) variant of VPS13C (Q709C8)
V90I (p.Val90Ile) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
V90I (p.Val90Ile) variant details
- p.Val90Ile
- TOPMed rs909398641
- gnomAD rs909398641
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.28
- MetaSVM -0.77
- CADD 14.63
- Most common in the Ashkenazi Jewish population (allele frequency 0.00082)
- Structural context available