L1433S (p.Leu1433Ser) variant of MTOR (P42345)
L1433S (p.Leu1433Ser) in MTOR (P42345) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Isolated focal cortical dysplasia type II. The record also includes structural context.
L1433S (p.Leu1433Ser) variant details
- p.Leu1433Ser
- rs2100609915
- ClinGen CA338375260
- NCI-TCGA Cosmic COSV6386
- ClinVar RCV002249105
- Likely pathogenic
- Isolated focal cortical dysplasia type II
- Missense
- ClinVar: Likely pathogenic (Isolated focal cortical dysplasia type II)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available