W1490R (p.Trp1490Arg) variant of MTOR (P42345)
W1490R (p.Trp1490Arg) in MTOR (P42345) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR p. The record also includes published literature and structural context.
W1490R (p.Trp1490Arg) variant details
- p.Trp1490Arg
- rs2100566800
- Ensembl rs2100566800
- ClinGen CA338371453
- ClinVar RCV001837032
- Likely pathogenic
- Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR p
- Missense
- ClinVar: Likely pathogenic (Overgrowth syndrome and/or cerebral malformations due to abnorma)
- EBI: Pathogenic (in SKS)
- UniProt: Pathogenic (in SKS)
- Structural context available
- Cited in: Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy. (PMID 27830187)
- Cited in: A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and… (PMID 25851998)