N126S (p.Asn126Ser) variant of MECP2 (Methyl-CpG-binding protein 2)
N126S (p.Asn126Ser) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Rett syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
N126S (p.Asn126Ser) variant details
- p.Asn126Ser
- rs786205037
- ClinGen CA280064
- ClinVar RCV000170271
- ClinVar RCV003991024
- Uncertain significance
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- AlphaMissense 0.31
- MetaLR 0.87
- MetaSVM 0.88
- PolyPhen-2 0.68
- SIFT 0.26
- MutPred 0.83
- ClinVar: Uncertain significance (Rett syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)