E102K (p.Glu102Lys) variant of MECP2 (Methyl-CpG-binding protein 2)
E102K (p.Glu102Lys) 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 and structural context.
E102K (p.Glu102Lys) variant details
- p.Glu102Lys
- NCI-TCGA Cosmic COSV5765
- cosmic curated COSV57656
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.73
- MetaSVM 0.26
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available