D17G (p.Asp17Gly) variant of VPS13C (Q709C8)
D17G (p.Asp17Gly) in VPS13C (Q709C8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
D17G (p.Asp17Gly) variant details
- p.Asp17Gly
- rs1464137000
- ClinGen CA392678374
- ClinVar RCV002620045
- TOPMed rs1464137000
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.60
- ESM-1b 0.52
- AlphaMissense 0.31
- MetaLR 0.68
- MetaSVM 0.47
- CADD 26.30
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available