V2406M (p.Val2406Met) variant of MTOR (P42345)
V2406M (p.Val2406Met) in MTOR (P42345) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax sy. The record also includes published literature and structural context.
V2406M (p.Val2406Met) variant details
- p.Val2406Met
- rs1557739557
- ClinGen CA338381088
- NCI-TCGA Cosmic COSV6387
- cosmic curated COSV63873
- Pathogenic/Likely pathogenic
- Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax sy
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Macrocephaly-intellectual disability-neurodevelopmental disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Smith-Kingsmore Syndrome. (PMID 41264764)