A1459P (p.Ala1459Pro) variant of MTOR (P42345)
A1459P (p.Ala1459Pro) 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.
A1459P (p.Ala1459Pro) variant details
- p.Ala1459Pro
- NCI-TCGA Cosmic COSV6386
- NCI-TCGA Cosmic COSV6387
- gnomAD rs1644347846
- Likely pathogenic
- Isolated focal cortical dysplasia type II
- Missense
- ClinVar: Likely pathogenic (Isolated focal cortical dysplasia type II)
- EBI: Variant of uncertain significance (in FCORD2)
- UniProt: Uncertain significance (in FCORD2)
- Structural context available