I2153V (p.Ile2153Val) variant of MTOR (P42345)
I2153V (p.Ile2153Val) 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.
I2153V (p.Ile2153Val) variant details
- p.Ile2153Val
- rs2100396600
- ClinGen CA338389673
- ClinVar RCV001824269
- Ensembl rs2100396600
- 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