E63K (p.Glu63Lys) variant of MECP2 (Methyl-CpG-binding protein 2)
E63K (p.Glu63Lys) 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 variant effect predictions, experimental measurements, and structural context.
E63K (p.Glu63Lys) variant details
- p.Glu63Lys
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.81
- MetaSVM 0.51
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.617