D2512G (p.Asp2512Gly) variant of MTOR (P42345)
D2512G (p.Asp2512Gly) in MTOR (P42345) is a missense change. Clinical records from ClinVar 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.
D2512G (p.Asp2512Gly) variant details
- p.Asp2512Gly
- NCI-TCGA Cosmic COSV6387
- cosmic curated COSV63877
- Ensembl rs2100280277
- Likely pathogenic
- Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax sy
- Missense
- ClinVar: Likely pathogenic (Macrocephaly-intellectual disability-neurodevelopmental disorder)
- UniProt: Likely pathogenic
- Structural context available