Y141C (p.Tyr141Cys) variant of MECP2 (Methyl-CpG-binding protein 2)
Y141C (p.Tyr141Cys) 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 Severe neonatal-onset encephalopathy with microcephaly; Rett syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
Y141C (p.Tyr141Cys) variant details
- p.Tyr141Cys
- rs61748395
- ClinGen CA270411
- ClinVar RCV000133104
- ClinVar RCV001849959
- Pathogenic
- Severe neonatal-onset encephalopathy with microcephaly; Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- AlphaMissense 0.96
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Pathogenic (Severe neonatal-onset encephalopathy with microcephaly; Rett syn)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: MECP2 Disorders. (PMID 20301670)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)