L138F (p.Leu138Phe) variant of MECP2 (Methyl-CpG-binding protein 2)
L138F (p.Leu138Phe) 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 X-linked intellectual disability-psychosis-macroorchidism syndrome; Syndromic X. The record also includes published literature and structural context.
L138F (p.Leu138Phe) variant details
- p.Leu138Phe
- rs2522088735
- ClinGen CA415175143
- ClinVar RCV003883344
- Pathogenic
- X-linked intellectual disability-psychosis-macroorchidism syndrome; Syndromic X
- Missense
- ClinVar: Pathogenic (X-linked intellectual disability-psychosis-macroorchidism syndro)
- 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)