C1729S (p.Cys1729Ser) variant of CREBBP (CREB-binding protein)
C1729S (p.Cys1729Ser) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Rubinstein-Taybi syndrome due to CREBBP mutations. The record also includes structural context.
C1729S (p.Cys1729Ser) variant details
- p.Cys1729Ser
- Ensembl rs2151312694
- Likely pathogenic
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Missense
- ClinVar: Likely pathogenic (Rubinstein-Taybi syndrome due to CREBBP mutations)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available