A1971V (p.Ala1971Val) variant of MTOR (P42345)
A1971V (p.Ala1971Val) 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.
A1971V (p.Ala1971Val) variant details
- p.Ala1971Val
- rs2100414567
- ClinGen CA338394738
- cosmic curated COSV63868
- ClinVar RCV001775303
- 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