R10W (p.Arg10Trp) variant of SYNGAP1 (Q96PV0)
R10W (p.Arg10Trp) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
R10W (p.Arg10Trp) variant details
- p.Arg10Trp
- rs1167492483
- TOPMed rs1167492483
- gnomAD rs1167492483
- ClinGen CA363677079
- Uncertain significance
- not provided; Intellectual disability, autosomal dominant 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- CADD 25.10
- PolyPhen-2 0.19
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Intellectual disability, autosomal dominant 5)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Cited in: SYNGAP1-Related Intellectual Disability. (PMID 30789692)