S2413I (p.Ser2413Ile) variant of MTOR (P42345)
S2413I (p.Ser2413Ile) in MTOR (P42345) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax sy. The record also includes published literature and structural context.
S2413I (p.Ser2413Ile) variant details
- p.Ser2413Ile
- rs1553171141
- ClinGen CA338380976
- cosmic curated COSV63873
- ClinVar RCV000623806
- Pathogenic
- Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax sy
- Missense
- ClinVar: Pathogenic (Macrocephaly-intellectual disability-neurodevelopmental disorder)
- 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)