Q44R (p.Gln44Arg) variant of SDHAF2 (Q9NX18)
Q44R (p.Gln44Arg) in SDHAF2 (Q9NX18) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided; Hereditary pheochromocyto. The record also includes published literature and structural context.
Q44R (p.Gln44Arg) variant details
- p.Gln44Arg
- rs2540124170
- ClinGen CA380683224
- ClinVar RCV002385641
- ClinVar RCV003149030
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Hereditary pheochromocyto
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Hereditar)
- 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)
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)