T158A (p.Thr158Ala) variant of MECP2 (Methyl-CpG-binding protein 2)
T158A (p.Thr158Ala) 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 Rett syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
T158A (p.Thr158Ala) variant details
- p.Thr158Ala
- rs61748411
- ClinGen CA270438
- ClinVar RCV000133128
- ClinVar RCV000482544
- Pathogenic
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.69
- ClinVar: Pathogenic (Rett syndrome)
- EBI: Pathogenic (in RTT)
- UniProt: Pathogenic (in RTT)
- Structural context available
- Cited in: Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. (PMID 11269512)
- Cited in: Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. (PMID 15057977)