L74S (p.Leu74Ser) variant of MTOR (P42345)
L74S (p.Leu74Ser) in MTOR (P42345) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax sy. The record also includes structural context.
L74S (p.Leu74Ser) variant details
- p.Leu74Ser
- rs2523469392
- ClinVar RCV004595004
- Uncertain significance
- Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax sy
- Missense
- ClinVar: Uncertain significance (Macrocephaly-intellectual disability-neurodevelopmental disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available