H1151Y (p.His1151Tyr) variant of SMARCA2 (P51531)
H1151Y (p.His1151Tyr) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Nicolaides-Baraitser syndrome. The record also includes structural context.
H1151Y (p.His1151Tyr) variant details
- p.His1151Tyr
- NCI-TCGA TCGA novel
- Likely pathogenic
- Nicolaides-Baraitser syndrome
- Missense
- ClinVar: Likely pathogenic (Nicolaides-Baraitser syndrome)
- UniProt: Likely pathogenic
- Structural context available