P883L (p.Pro883Leu) variant of SMARCA2 (P51531)
P883L (p.Pro883Leu) 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; Nicolaides-Baraitser syndrome. 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.
P883L (p.Pro883Leu) variant details
- p.Pro883Leu
- rs281875188
- ClinGen CA211275
- cosmic curated COSV61809
- ClinVar RCV000022916
- Pathogenic
- SMARCA2-related BAFopathy; not provided; Nicolaides-Baraitser syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.87
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.01
- CADD 23.80
- PolyPhen-2 0.01
- ClinVar: Pathogenic (SMARCA2-related BAFopathy; not provided; Nicolaides-Baraitser sy)
- EBI: Pathogenic (in NCBRS)
- UniProt: Pathogenic (in NCBRS)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. (PMID 22366787)
- Cited in: SMARCA2-Related Nicolaides-Baraitser Syndrome. (PMID 26468571)