I43L (p.Ile43Leu) variant of VPS13C (Q709C8)
I43L (p.Ile43Leu) in VPS13C (Q709C8) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
I43L (p.Ile43Leu) variant details
- p.Ile43Leu
- TOPMed rs1009689306
- gnomAD rs1009689306
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.24
- MetaLR 0.32
- MetaSVM -0.25
- CADD 24.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available