I2500M (p.Ile2500Met) variant of MTOR (P42345)
I2500M (p.Ile2500Met) in MTOR (P42345) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax sy. The record also includes structural context.
I2500M (p.Ile2500Met) variant details
- p.Ile2500Met
- rs1057519915
- ClinGen CA16602890
- NCI-TCGA Cosmic COSV6386
- cosmic curated COSV63869
- Likely pathogenic
- Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax sy
- Missense
- ClinVar: Likely pathogenic (Macrocephaly-intellectual disability-neurodevelopmental disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available