R41C (p.Arg41Cys) variant of SYNGAP1 (Q96PV0)
R41C (p.Arg41Cys) in SYNGAP1 (Q96PV0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Intellectual disability, autosomal dominant 5; Intellectual disabi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R41C (p.Arg41Cys) variant details
- p.Arg41Cys
- rs762142487
- ExAC rs762142487
- gnomAD rs762142487
- ClinGen CA3758384
- Conflicting interpretations
- not provided; Intellectual disability, autosomal dominant 5; Intellectual disabi
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- CADD 29.70
- PolyPhen-2 0.92
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (not provided; Intellectual disability, autosomal dominant 5; Int)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)
- Cited in: Comprehensive evaluation of the child with intellectual disability or global developmental delays. (PMID 25157020)