R937L (p.Arg937Leu) variant of SMARCA2 (P51531)
R937L (p.Arg937Leu) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Intellectual disability; Blepharophimosis-impaired intellectual development synd. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
R937L (p.Arg937Leu) variant details
- p.Arg937Leu
- rs1586692551
- ClinGen CA372785456
- ClinVar RCV001027661
- ClinVar RCV001375922
- Pathogenic/Likely pathogenic
- Intellectual disability; Blepharophimosis-impaired intellectual development synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic/Likely pathogenic (Intellectual disability; Blepharophimosis-impaired intellectual)
- 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)