P302R (p.Pro302Arg) variant of MECP2 (Methyl-CpG-binding protein 2)
P302R (p.Pro302Arg) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
P302R (p.Pro302Arg) variant details
- p.Pro302Arg
- rs61749723
- ClinGen CA270572
- ClinVar RCV000133280
- ClinVar RCV002515933
- Pathogenic/Likely pathogenic
- not provided; Severe neonatal-onset encephalopathy with microcephaly; Rett syndr
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- AlphaMissense 0.99
- MetaLR 0.92
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- 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: Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions. (PMID 11241840)