V90F (p.Val90Phe) variant of VPS13C (Q709C8)
V90F (p.Val90Phe) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
V90F (p.Val90Phe) variant details
- p.Val90Phe
- TOPMed rs909398641
- gnomAD rs909398641
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.30
- MetaLR 0.63
- MetaSVM 0.26
- CADD 21.90
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available