R855Q (p.Arg855Gln) variant of SMARCA2 (P51531)
R855Q (p.Arg855Gln) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of SMARCA2-related BAFopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
R855Q (p.Arg855Gln) variant details
- p.Arg855Gln
- rs1471482709
- ClinGen CA372784870
- NCI-TCGA Cosmic COSV6180
- cosmic curated COSV61804
- Pathogenic
- SMARCA2-related BAFopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- REVEL 0.97
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.02
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (SMARCA2-related BAFopathy; not provided)
- EBI: Pathogenic (in NCBRS)
- UniProt: Pathogenic (in NCBRS)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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: Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. (PMID 22366787)