S52L (p.Ser52Leu) variant of SYNGAP1 (Q96PV0)
S52L (p.Ser52Leu) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
S52L (p.Ser52Leu) variant details
- p.Ser52Leu
- rs1554304680
- Ensembl rs1554304680
- ClinGen CA363678159
- cosmic curated COSV53380
- Uncertain significance
- Intellectual disability, autosomal dominant 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- CADD 27.30
- PolyPhen-2 0.71
- SIFT 0.02
- ClinVar: Uncertain significance (Intellectual disability, autosomal dominant 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: SYNGAP1-Related Intellectual Disability. (PMID 30789692)