H854L (p.His854Leu) variant of SMARCA2 (P51531)
H854L (p.His854Leu) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Nicolaides-Baraitser syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
H854L (p.His854Leu) variant details
- p.His854Leu
- rs281875202
- ClinGen CA372784867
- ClinVar RCV001261296
- Ensembl rs281875202
- Pathogenic
- Nicolaides-Baraitser syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic (Nicolaides-Baraitser syndrome)
- EBI: Pathogenic (in NCBRS)
- UniProt: Pathogenic (in NCBRS)
- Structural context available
- Cited in: SMARCA2-Related Nicolaides-Baraitser Syndrome. (PMID 26468571)