R25W (p.Arg25Trp) variant of SYNGAP1 (Q96PV0)
R25W (p.Arg25Trp) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R25W (p.Arg25Trp) variant details
- p.Arg25Trp
- rs1776859933
- TOPMed rs1776859933
- gnomAD rs1776859933
- ClinGen CA363677792
- Uncertain significance
- not provided; Intellectual disability, autosomal dominant 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- CADD 28.70
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Intellectual disability, autosomal dominant 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: SYNGAP1-Related Intellectual Disability. (PMID 30789692)