R117* (p.Arg117Ter) variant of VPS13C (Q709C8)
R117* (p.Arg117Ter) in VPS13C (Q709C8) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R117* (p.Arg117Ter) variant details
- p.Arg117Ter
- rs778239562
- ClinGen CA7597583
- ClinVar RCV002639626
- ExAC rs778239562
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.451
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.1e-05)
- Structural context available