V80I (p.Val80Ile) variant of VPS13C (Q709C8)
V80I (p.Val80Ile) 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 0.26 / 1. The record also includes population frequency data and structural context.
V80I (p.Val80Ile) variant details
- p.Val80Ile
- 1000Genomes rs116290723
- ESP rs116290723
- ExAC rs116290723
- TOPMed rs116290723
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.34
- MetaSVM -0.56
- CADD 18.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available