W1456G (p.Trp1456Gly) variant of MTOR (P42345)
W1456G (p.Trp1456Gly) 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 published literature and structural context.
W1456G (p.Trp1456Gly) variant details
- p.Trp1456Gly
- rs1085307114
- ClinGen CA338372045
- NCI-TCGA Cosmic COSV6386
- ClinVar RCV000477684
- 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
- Cited in: Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR. (PMID 25878179)
- Cited in: Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy. (PMID 25799227)