S2215F (p.Ser2215Phe) variant of MTOR (P42345)
S2215F (p.Ser2215Phe) 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.
S2215F (p.Ser2215Phe) variant details
- p.Ser2215Phe
- rs587777894
- ClinGen CA248393
- NCI-TCGA Cosmic COSV6386
- cosmic curated COSV63868
- 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: Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy. (PMID 25799227)
- Cited in: Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb. (PMID 26018084)