R2076Q (p.Arg2076Gln) variant of MTOR (P42345)
R2076Q (p.Arg2076Gln) 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.
R2076Q (p.Arg2076Gln) variant details
- p.Arg2076Gln
- rs2100402606
- ClinGen CA338392490
- ClinVar RCV001376166
- Ensembl rs2100402606
- 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