E4Q (p.Glu4Gln) variant of VPS13C (Q709C8)
E4Q (p.Glu4Gln) 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 0.78 / 1. The record also includes population frequency data and structural context.
E4Q (p.Glu4Gln) variant details
- p.Glu4Gln
- rs780418987
- ClinGen CA7597735
- ClinVar RCV001929267
- ExAC rs780418987
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.90
- MetaLR 0.80
- MetaSVM 0.81
- CADD 27.70
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available