S12R (p.Ser12Arg) variant of SYNGAP1 (Q96PV0)
S12R (p.Ser12Arg) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
S12R (p.Ser12Arg) variant details
- p.Ser12Arg
- rs1362587238
- ClinGen CA363677094
- ClinVar RCV002726267
- TOPMed rs1362587238
- Uncertain significance
- Intellectual disability, autosomal dominant 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (Intellectual disability, autosomal dominant 5)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: SYNGAP1-Related Intellectual Disability. (PMID 30789692)