W117* (p.Trp117Ter) variant of SLC2A2 (P11168)
W117* (p.Trp117Ter) in SLC2A2 (P11168) 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 0.52 / 1. The record also includes population frequency data and structural context.
W117* (p.Trp117Ter) variant details
- p.Trp117Ter
- rs753980727
- ClinGen CA355492561
- ClinVar RCV002250958
- Ensembl rs753980727
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.522
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available