H939Y (p.His939Tyr) variant of SMARCA2 (P51531)
H939Y (p.His939Tyr) 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 0.89 / 1. The record also includes published literature and structural context.
H939Y (p.His939Tyr) variant details
- p.His939Tyr
- rs281875190
- ClinGen CA211279
- ClinVar RCV000022918
- ClinVar RCV000059667
- Pathogenic
- Nicolaides-Baraitser syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- AlphaMissense 0.98
- MetaLR 0.92
- MetaSVM 1.04
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic (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: SMARCA2-Related Nicolaides-Baraitser Syndrome. (PMID 26468571)