L2427P (p.Leu2427Pro) variant of MTOR (P42345)
L2427P (p.Leu2427Pro) in MTOR (P42345) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR p. The record also includes published literature and structural context.
L2427P (p.Leu2427Pro) variant details
- p.Leu2427Pro
- rs1085307113
- ClinGen CA338380762
- cosmic curated COSV63874
- ClinVar RCV000477731
- Pathogenic
- Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR p
- Missense
- ClinVar: Pathogenic (Overgrowth syndrome and/or cerebral malformations due to abnorma)
- EBI: Pathogenic (in FCORD2)
- UniProt: Pathogenic (in FCORD2)
- Structural context available
- Cited in: Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy. (PMID 25799227)
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)