E2419K (p.Glu2419Lys) variant of MTOR (P42345)
E2419K (p.Glu2419Lys) in MTOR (P42345) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of CEBALID syndrome; Overgrowth syndrome and/or cerebral malformations due to abnor. The record also includes published literature and structural context.
E2419K (p.Glu2419Lys) variant details
- p.Glu2419Lys
- rs587777900
- ClinGen CA248407
- NCI-TCGA Cosmic COSV6386
- cosmic curated COSV63869
- Pathogenic
- CEBALID syndrome; Overgrowth syndrome and/or cerebral malformations due to abnor
- Missense
- ClinVar: Pathogenic (CEBALID syndrome; Overgrowth syndrome and/or cerebral malformati)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)