P12R (p.Pro12Arg) variant of SUFU (Suppressor of fused homolog)
P12R (p.Pro12Arg) in SUFU (Suppressor of fused homolog) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
P12R (p.Pro12Arg) variant details
- p.Pro12Arg
- rs2544830107
- ClinGen CA377886184
- ClinVar RCV004522046
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)