A15T (p.Ala15Thr) variant of CREBBP (CREB-binding protein)
A15T (p.Ala15Thr) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1. The record also includes structural context.
A15T (p.Ala15Thr) variant details
- p.Ala15Thr
- Ensembl rs2141616315
- Uncertain significance
- Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1
- Missense
- ClinVar: Uncertain significance (Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Henneka)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available