L2427R (p.Leu2427Arg) variant of MTOR (P42345)
L2427R (p.Leu2427Arg) in MTOR (P42345) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Isolated focal cortical dysplasia type II. The record also includes structural context.
L2427R (p.Leu2427Arg) variant details
- p.Leu2427Arg
- NCI-TCGA Cosmic COSV6386
- cosmic curated COSV63869
- NCI-TCGA Cosmic COSV6387
- Pathogenic
- Isolated focal cortical dysplasia type II
- Missense
- ClinVar: Pathogenic (Isolated focal cortical dysplasia type II)
- EBI: Pathogenic (in FCORD2)
- UniProt: Pathogenic (in FCORD2)
- Structural context available