I2501F (p.Ile2501Phe) variant of MTOR (P42345)
I2501F (p.Ile2501Phe) in MTOR (P42345) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of CEBALID syndrome. The record also includes published literature and structural context.
I2501F (p.Ile2501Phe) variant details
- p.Ile2501Phe
- rs968817513
- ClinGen CA338378594
- NCI-TCGA Cosmic COSV6387
- cosmic curated COSV63871
- Pathogenic
- CEBALID syndrome
- Missense
- ClinVar: Pathogenic (CEBALID syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)