K42Q (p.Lys42Gln) variant of MECP2 (Methyl-CpG-binding protein 2)
K42Q (p.Lys42Gln) 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 Severe neonatal-onset encephalopathy with microcephaly. The record also includes variant effect predictions, population frequency data, experimental measurements, and structural context.
K42Q (p.Lys42Gln) variant details
- p.Lys42Gln
- TOPMed rs1438755884
- Uncertain significance
- Severe neonatal-onset encephalopathy with microcephaly
- Missense
- MetaLR 0.94
- MetaSVM 0.97
- SIFT 0.04
- ClinVar: Uncertain significance (Severe neonatal-onset encephalopathy with microcephaly)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.847