S783W (p.Ser783Trp) variant of SMARCA2 (P51531)
S783W (p.Ser783Trp) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Intellectual disability; Nicolaides-Baraitser syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
S783W (p.Ser783Trp) variant details
- p.Ser783Trp
- rs1554623112
- ClinGen CA372784348
- ClinVar RCV000502088
- ClinVar RCV001260785
- Likely pathogenic
- Intellectual disability; Nicolaides-Baraitser syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.951
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.84
- ClinVar: Likely pathogenic (Intellectual disability; Nicolaides-Baraitser syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)