R937C (p.Arg937Cys) variant of SMARCA2 (P51531)
R937C (p.Arg937Cys) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Blepharophimosis-impaired intellectual development syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
R937C (p.Arg937Cys) variant details
- p.Arg937Cys
- rs1586692548
- ClinGen CA372785453
- ClinVar RCV001027659
- ClinVar RCV005232064
- Pathogenic
- Blepharophimosis-impaired intellectual development syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic (Blepharophimosis-impaired intellectual development syndrome)
- EBI: Pathogenic (in BIS)
- UniProt: Pathogenic (in BIS)
- Structural context available
- Cited in: De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual… (PMID 32694869)
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)