Y1539N (p.Tyr1539Asn) variant of CREBBP (CREB-binding protein)
Y1539N (p.Tyr1539Asn) 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. The record also includes published literature and structural context.
Y1539N (p.Tyr1539Asn) variant details
- p.Tyr1539Asn
- rs2548362072
- ClinGen CA394562711
- ClinVar RCV003593782
- Likely pathogenic
- Rubinstein-Taybi syndrome
- Missense
- ClinVar: Likely pathogenic (Rubinstein-Taybi syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)