R53* (p.Arg53Ter) variant of SLC2A2 (P11168)
R53* (p.Arg53Ter) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R53* (p.Arg53Ter) variant details
- p.Arg53Ter
- rs771477447
- ClinGen CA355493790
- ClinVar RCV000017480
- ClinVar RCV003974835
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.476
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel… (PMID 11810292)