E852K (p.Glu852Lys) variant of SMARCA2 (P51531)
E852K (p.Glu852Lys) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Nicolaides-Baraitser syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
E852K (p.Glu852Lys) variant details
- p.Glu852Lys
- rs281875199
- ClinGen CA219874
- NCI-TCGA Cosmic COSV6180
- cosmic curated COSV61809
- Pathogenic
- not provided; Nicolaides-Baraitser syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.91
- PolyPhen-2 0.59
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic (not provided; Nicolaides-Baraitser syndrome)
- EBI: Pathogenic (in NCBRS)
- UniProt: Pathogenic (in NCBRS)
- Structural context available
- Cited in: Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. (PMID 22366787)
- Cited in: A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and… (PMID 23906836)