R10Q (p.Arg10Gln) variant of SYNGAP1 (Q96PV0)
R10Q (p.Arg10Gln) 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 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R10Q (p.Arg10Gln) variant details
- p.Arg10Gln
- rs866982002
- TOPMed rs866982002
- gnomAD rs866982002
- ClinGen CA137092044
- Uncertain significance
- Intellectual disability, autosomal dominant 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.27
- 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 1.9e-05)
- Structural context available
- Cited in: SYNGAP1-Related Intellectual Disability. (PMID 30789692)