C1483Y (p.Cys1483Tyr) variant of MTOR (P42345)
C1483Y (p.Cys1483Tyr) 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.
C1483Y (p.Cys1483Tyr) variant details
- p.Cys1483Tyr
- rs786205165
- ClinGen CA16602888
- NCI-TCGA Cosmic COSV6386
- 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: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)
- Cited in: Smith-Kingsmore Syndrome. (PMID 41264764)