G26R (p.Gly26Arg) variant of SYNGAP1 (Q96PV0)
G26R (p.Gly26Arg) in SYNGAP1 (Q96PV0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Intellectual disability, autosomal dominant 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
G26R (p.Gly26Arg) variant details
- p.Gly26Arg
- rs1554304652
- TOPMed rs1554304652
- gnomAD rs1554304652
- ClinGen CA363677800
- Benign
- Intellectual disability, autosomal dominant 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Benign (Intellectual disability, autosomal dominant 5)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- Cited in: SYNGAP1-Related Intellectual Disability. (PMID 30789692)