R525C (p.Arg525Cys) variant of SMARCA2 (P51531)
R525C (p.Arg525Cys) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Blepharophimosis-impaired intellectual development syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
R525C (p.Arg525Cys) variant details
- p.Arg525Cys
- rs1586660370
- ClinGen CA372782491
- NCI-TCGA Cosmic COSV6180
- cosmic curated COSV61809
- Pathogenic
- not provided; Blepharophimosis-impaired intellectual development syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- AlphaMissense 1.00
- MetaLR 0.67
- MetaSVM 0.52
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic (not provided; Blepharophimosis-impaired intellectual development)
- 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)