V143F (p.Val143Phe) variant of VPS13C (Q709C8)
V143F (p.Val143Phe) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
V143F (p.Val143Phe) variant details
- p.Val143Phe
- TOPMed rs190222028
- gnomAD rs190222028
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.21
- MetaLR 0.08
- MetaSVM -1.02
- CADD 20.80
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available