L57F (p.Leu57Phe) variant of SYNGAP1 (Q96PV0)
L57F (p.Leu57Phe) in SYNGAP1 (Q96PV0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Intellectual disability, autosomal dominant 5. The record also includes published literature and structural context.
L57F (p.Leu57Phe) variant details
- p.Leu57Phe
- rs2537284170
- ClinGen CA363678216
- ClinVar RCV002736096
- ClinVar RCV003443076
- Uncertain significance
- not provided; Intellectual disability, autosomal dominant 5
- Missense
- ClinVar: Uncertain significance (not provided; Intellectual disability, autosomal dominant 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: SYNGAP1-Related Intellectual Disability. (PMID 30789692)