R37H (p.Arg37His) variant of SMARCB1 (Q12824)
R37H (p.Arg37His) in SMARCB1 (Q12824) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of SMARCB1-related BAFopathy; Coffin-Siris syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes experimental measurements, published literature, and structural context.
R37H (p.Arg37His) variant details
- p.Arg37His
- rs398122368
- ClinGen CA145398
- ClinVar RCV000074462
- ClinVar RCV000262341
- Pathogenic/Likely pathogenic
- SMARCB1-related BAFopathy; Coffin-Siris syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.59
- ClinVar: Pathogenic/Likely pathogenic (SMARCB1-related BAFopathy; Coffin-Siris syndrome; not provided)
- EBI: Pathogenic (in CSS3)
- UniProt: Pathogenic (in CSS3)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score 0.099
- Cited in: Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. (PMID 22726846)
- Cited in: A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus… (PMID 29907796)