V143L (p.Val143Leu) variant of VPS13C (Q709C8)
V143L (p.Val143Leu) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
V143L (p.Val143Leu) variant details
- p.Val143Leu
- TOPMed rs190222028
- gnomAD rs190222028
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.08
- MetaSVM -1.08
- CADD 17.70
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available