M2327I (p.Met2327Ile) variant of MTOR (P42345)
M2327I (p.Met2327Ile) in MTOR (P42345) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Macrocephaly-intellectual disability-neurodevelopmental disorder-s. The record also includes published literature and structural context.
M2327I (p.Met2327Ile) variant details
- p.Met2327Ile
- rs878855328
- ClinGen CA10583991
- NCI-TCGA Cosmic COSV6386
- cosmic curated COSV63868
- Pathogenic
- not provided; Macrocephaly-intellectual disability-neurodevelopmental disorder-s
- Missense
- ClinVar: Pathogenic (not provided; Macrocephaly-intellectual disability-neurodevelopm)
- EBI: Pathogenic (in SKS)
- UniProt: Pathogenic (in SKS)
- Structural context available
- Cited in: Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy. (PMID 27830187)
- Cited in: Smith-Kingsmore Syndrome. (PMID 41264764)