L1460P (p.Leu1460Pro) variant of MTOR (P42345)
L1460P (p.Leu1460Pro) 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.
L1460P (p.Leu1460Pro) variant details
- p.Leu1460Pro
- rs1057519779
- ClinGen CA16602588
- ClinVar RCV000477729
- ClinVar RCV001836815
- 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: Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb. (PMID 26018084)
- Cited in: Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy. (PMID 27830187)