E7Q (p.Glu7Gln) variant of EP300 (Histone acetyltransferase p300)
E7Q (p.Glu7Gln) in EP300 (Histone acetyltransferase p300) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Rubinstein-Taybi syndrome due to CREBBP mutations; Colorectal cancer; Rubinstein. The record also includes structural context.
E7Q (p.Glu7Gln) variant details
- p.Glu7Gln
- Ensembl rs2145665461
- Uncertain significance
- Rubinstein-Taybi syndrome due to CREBBP mutations; Colorectal cancer; Rubinstein
- Missense
- ClinVar: Uncertain significance (Rubinstein-Taybi syndrome due to CREBBP mutations; Colorectal ca)
- UniProt: Uncertain significance
- Structural context available