Q18L (p.Gln18Leu) variant of SMARCE1 (Q969G3)
Q18L (p.Gln18Leu) in SMARCE1 (Q969G3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Familial meningioma. The record also includes experimental measurements and structural context.
Q18L (p.Gln18Leu) variant details
- p.Gln18Leu
- TOPMed rs979272847
- Uncertain significance
- Familial meningioma
- Missense
- ClinVar: Uncertain significance (Familial meningioma)
- UniProt: Uncertain significance
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -1.55