G8R (p.Gly8Arg) variant of SUFU (Suppressor of fused homolog)
G8R (p.Gly8Arg) in SUFU (Suppressor of fused homolog) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
G8R (p.Gly8Arg) variant details
- p.Gly8Arg
- rs2544829884
- ClinGen CA2825001676
- ClinVar RCV004522041
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)