G161V (p.Gly161Val) variant of MECP2 (Methyl-CpG-binding protein 2)
G161V (p.Gly161Val) 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 0.87 / 1. The record also includes published literature and structural context.
G161V (p.Gly161Val) variant details
- p.Gly161Val
- rs61748417
- ClinGen CA270449
- ClinVar RCV000133137
- ClinVar RCV003522934
- Likely pathogenic
- Severe neonatal-onset encephalopathy with microcephaly; Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Likely pathogenic (Severe neonatal-onset encephalopathy with microcephaly; Rett syn)
- EBI: Pathogenic (in RTT)
- UniProt: Pathogenic (in RTT)
- Structural context available
- Cited in: Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. (PMID 15057977)
- Cited in: MECP2 Disorders. (PMID 20301670)