P225L (p.Pro225Leu) variant of MECP2 (Methyl-CpG-binding protein 2)
P225L (p.Pro225Leu) 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 Severe neonatal-onset encephalopathy with microcephaly; Rett syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
P225L (p.Pro225Leu) variant details
- p.Pro225Leu
- rs61749715
- ClinGen CA121713
- cosmic curated COSV57656
- ClinVar RCV000012615
- Likely pathogenic
- Severe neonatal-onset encephalopathy with microcephaly; Rett syndrome
- 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: Likely pathogenic (Severe neonatal-onset encephalopathy with microcephaly; Rett syn)
- EBI: Pathogenic (in MRXS13)
- UniProt: Pathogenic (in MRXS13)
- Structural context available
- Cited in: Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2). (PMID 12615169)
- Cited in: A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. (PMID 10986043)