D17E (p.Asp17Glu) variant of MECP2 (Methyl-CpG-binding protein 2)
D17E (p.Asp17Glu) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes experimental measurements and structural context.
D17E (p.Asp17Glu) variant details
- p.Asp17Glu
- gnomAD rs1557138037
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score 0.175