S134C (p.Ser134Cys) variant of MECP2 (Methyl-CpG-binding protein 2)
S134C (p.Ser134Cys) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; not provided; Syndromic X-linked intellectual disabilit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
S134C (p.Ser134Cys) variant details
- p.Ser134Cys
- rs61748390
- ClinGen CA270396
- ClinVar RCV000133095
- ClinVar RCV000375578
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Syndromic X-linked intellectual disabilit
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Syndromic X-linked intell)
- EBI: Pathogenic (in RTT)
- UniProt: Pathogenic (in RTT)
- Structural context available
- Cited in: Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation… (PMID 10767337)
- Cited in: Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome. (PMID 10991688)