K39R (p.Lys39Arg) variant of MECP2 (Methyl-CpG-binding protein 2)
K39R (p.Lys39Arg) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Severe neonatal-onset encephalopathy with. The record also includes variant effect predictions, experimental measurements, and structural context.
K39R (p.Lys39Arg) variant details
- p.Lys39Arg
- TOPMed rs2065989454
- Uncertain significance
- Inborn genetic diseases; not provided; Severe neonatal-onset encephalopathy with
- Missense
- MetaLR 0.94
- MetaSVM 1.11
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Severe neonatal-onset enc)
- UniProt: Uncertain significance
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.851