A14T (p.Ala14Thr) variant of SMARCE1 (Q969G3)
A14T (p.Ala14Thr) 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 experimental measurements, published literature, and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- rs2508617525
- ClinGen CA399370933
- ClinVar RCV003638212
- Uncertain significance
- Familial meningioma
- Missense
- ClinVar: Uncertain significance (Familial meningioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -0.701
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)