R374Q (p.Arg374Gln) variant of SMARCB1 (Q12824)
R374Q (p.Arg374Gln) in SMARCB1 (Q12824) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Coffin-Siris syndrome; not provided; Intellectual disability, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R374Q (p.Arg374Gln) variant details
- p.Arg374Gln
- rs1057517825
- ClinGen CA16043146
- NCI-TCGA Cosmic COSV5195
- cosmic curated COSV51954
- Pathogenic/Likely pathogenic
- Coffin-Siris syndrome; not provided; Intellectual disability, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- CADD 33.00
- PolyPhen-2 0.78
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Coffin-Siris syndrome; not provided; Intellectual disability, au)
- EBI: Pathogenic (in CSS3)
- UniProt: Pathogenic (in CSS3)
- Population evidence available
- Structural context available
- Cited in: A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and… (PMID 23906836)
- Cited in: Coffin-Siris Syndrome. (PMID 23556151)