A1669S (p.Ala1669Ser) variant of MTOR (P42345)
A1669S (p.Ala1669Ser) 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 structural context.
A1669S (p.Ala1669Ser) variant details
- p.Ala1669Ser
- rs2100477650
- ClinGen CA338402061
- ClinVar RCV001837036
- Ensembl rs2100477650
- 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: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available