Q128K (p.Gln128Lys) variant of MECP2 (Methyl-CpG-binding protein 2)
Q128K (p.Gln128Lys) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Severe neonatal-onset encephalopathy with microcephaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature and structural context.
Q128K (p.Gln128Lys) variant details
- p.Gln128Lys
- rs267608469
- ClinGen CA415175447
- ClinVar RCV001062759
- ClinVar RCV004809012
- Likely pathogenic
- not provided; Severe neonatal-onset encephalopathy with microcephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- AlphaMissense 0.14
- MetaLR 0.82
- MetaSVM 0.61
- PolyPhen-2 0.01
- SIFT 0.46
- EVE 0.07
- ClinVar: Likely pathogenic (not provided; Severe neonatal-onset encephalopathy with microcep)
- EBI: Pathogenic (in RTT)
- UniProt: Pathogenic (in RTT)
- Structural context available
- Cited in: MECP2 Disorders. (PMID 20301670)