A50G (p.Ala50Gly) variant of MECP2 (Methyl-CpG-binding protein 2)
A50G (p.Ala50Gly) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes experimental measurements and structural context.
A50G (p.Ala50Gly) variant details
- p.Ala50Gly
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10031
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.593