G30C (p.Gly30Cys) variant of EP300 (Histone acetyltransferase p300)
G30C (p.Gly30Cys) in EP300 (Histone acetyltransferase p300) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
G30C (p.Gly30Cys) variant details
- p.Gly30Cys
- Ensembl rs2145665814
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available