P225R (p.Pro225Arg) variant of MECP2 (Methyl-CpG-binding protein 2)
P225R (p.Pro225Arg) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of X-linked MECP2-related disorders; not provided; Severe neonatal-onset encephalop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
P225R (p.Pro225Arg) variant details
- p.Pro225Arg
- rs61749715
- ClinGen CA270500
- ClinVar RCV000133193
- ClinVar RCV000476280
- Pathogenic
- X-linked MECP2-related disorders; not provided; Severe neonatal-onset encephalop
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- AlphaMissense 0.96
- MetaLR 0.79
- MetaSVM 0.71
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.68
- ClinVar: Pathogenic (X-linked MECP2-related disorders; not provided; Severe neonatal-)
- EBI: Pathogenic (in RTT)
- UniProt: Pathogenic (in RTT)
- Structural context available
- Cited in: Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation… (PMID 10767337)
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)