F1888L (p.Phe1888Leu) variant of MTOR (P42345)
F1888L (p.Phe1888Leu) in MTOR (P42345) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax sy. The record also includes published literature and structural context.
F1888L (p.Phe1888Leu) variant details
- p.Phe1888Leu
- rs2100423871
- ClinGen CA338397663
- cosmic curated COSV63874
- ClinVar RCV003458280
- Likely pathogenic
- Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax sy
- Missense
- ClinVar: Likely pathogenic (Macrocephaly-intellectual disability-neurodevelopmental disorder)
- EBI: Likely pathogenic (in SKS)
- UniProt: Likely pathogenic (in SKS)
- Structural context available
- Cited in: Smith-Kingsmore Syndrome. (PMID 41264764)
- Cited in: Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for… (PMID 22918138)