V1361A (p.Val1361Ala) variant of CREBBP (CREB-binding protein)
V1361A (p.Val1361Ala) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Rubinstein-Taybi syndrome due to CREBBP mutations. The record also includes structural context.
V1361A (p.Val1361Ala) variant details
- p.Val1361Ala
- Ensembl rs2151340237
- Likely pathogenic
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Missense
- ClinVar: Likely pathogenic (Rubinstein-Taybi syndrome due to CREBBP mutations)
- UniProt: Likely pathogenic
- Structural context available