E122G (p.Glu122Gly) variant of SMARCE1 (Q969G3)
E122G (p.Glu122Gly) 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.
E122G (p.Glu122Gly) variant details
- p.Glu122Gly
- rs2508604513
- ClinGen CA399366900
- ClinVar RCV003640327
- Uncertain significance
- Familial meningioma
- Missense
- ClinVar: Uncertain significance (Familial meningioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)