E63Q (p.Glu63Gln) variant of SYNGAP1 (Q96PV0)
E63Q (p.Glu63Gln) in SYNGAP1 (Q96PV0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Intellectual disability, autosomal dominant 5. The record also includes published literature and structural context.
E63Q (p.Glu63Gln) variant details
- p.Glu63Gln
- rs1554304687
- ClinGen CA363678307
- ClinVar RCV003056010
- Uncertain significance
- Intellectual disability, autosomal dominant 5
- Missense
- ClinVar: Uncertain significance (Intellectual disability, autosomal dominant 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: SYNGAP1-Related Intellectual Disability. (PMID 30789692)