P322A (p.Pro322Ala) variant of MECP2 (Methyl-CpG-binding protein 2)
P322A (p.Pro322Ala) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Severe neonatal-onset encephalopathy with microcephaly; Rett syndr. The record also includes published literature and structural context.
P322A (p.Pro322Ala) variant details
- p.Pro322Ala
- rs61751449
- ClinGen CA274540
- ClinVar RCV000169949
- ClinVar RCV002262751
- Pathogenic/Likely pathogenic
- not provided; Severe neonatal-onset encephalopathy with microcephaly; Rett syndr
- Missense
- ClinVar: Pathogenic/Likely pathogenic (not provided; Severe neonatal-onset encephalopathy with microcep)
- EBI: Pathogenic (in RTT)
- UniProt: Pathogenic (in RTT)
- Structural context available
- Cited in: MECP2 mutations account for most cases of typical forms of Rett syndrome. (PMID 10814719)
- Cited in: Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype… (PMID 11738883)