A54S (p.Ala54Ser) variant of MECP2 (Methyl-CpG-binding protein 2)
A54S (p.Ala54Ser) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. The record also includes experimental measurements and structural context.
A54S (p.Ala54Ser) variant details
- p.Ala54Ser
- TOPMed rs2065988294
- Missense
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.343