R937H (p.Arg937His) variant of SMARCA2 (P51531)
R937H (p.Arg937His) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Blepharophimosis-impaired intellectual development syndrome; SMARC. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R937H (p.Arg937His) variant details
- p.Arg937His
- rs1586692551
- ClinGen CA372785454
- cosmic curated COSV10817
- ClinVar RCV001027662
- Pathogenic/Likely pathogenic
- not provided; Blepharophimosis-impaired intellectual development syndrome; SMARC
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- REVEL 0.92
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 1.00
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Blepharophimosis-impaired intellectual development)
- EBI: Pathogenic (in BIS)
- UniProt: Pathogenic (in BIS)
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)