Q83R (p.Gln83Arg) variant of SMARCE1 (Q969G3)
Q83R (p.Gln83Arg) in SMARCE1 (Q969G3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial meningioma. The record also includes published literature and structural context.
Q83R (p.Gln83Arg) variant details
- p.Gln83Arg
- rs2508604703
- ClinGen CA2582342168
- ClinVar RCV003382146
- Uncertain significance
- Familial meningioma
- Missense
- ClinVar: Uncertain significance (Familial meningioma)
- EBI: Pathogenic
- UniProt: 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)