K12R (p.Lys12Arg) variant of MECP2 (Methyl-CpG-binding protein 2)
K12R (p.Lys12Arg) 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.
K12R (p.Lys12Arg) variant details
- p.Lys12Arg
- NCI-TCGA Cosmic COSV5765
- cosmic curated COSV57654
- Variant assessed as somatic; moderate impact.
- Missense
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.31