I2017T (p.Ile2017Thr) variant of MTOR (P42345)
I2017T (p.Ile2017Thr) in MTOR (P42345) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of CEBALID syndrome. The record also includes published literature and structural context.
I2017T (p.Ile2017Thr) variant details
- p.Ile2017Thr
- rs1642915400
- ClinGen CA338394209
- NCI-TCGA Cosmic COSV6387
- NCI-TCGA Cosmic COSV6388
- Likely pathogenic
- CEBALID syndrome
- Missense
- ClinVar: Likely pathogenic (CEBALID syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)