A1751T (p.Ala1751Thr) variant of EP300 (Histone acetyltransferase p300)
A1751T (p.Ala1751Thr) in EP300 (Histone acetyltransferase p300) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Menke-Hennekam syndrome 2. The record also includes structural context.
A1751T (p.Ala1751Thr) variant details
- p.Ala1751Thr
- Ensembl rs2145515270
- Likely pathogenic
- Menke-Hennekam syndrome 2
- Missense
- ClinVar: Likely pathogenic (Menke-Hennekam syndrome 2)
- UniProt: Likely pathogenic
- Structural context available