I1973F (p.Ile1973Phe) variant of MTOR (P42345)
I1973F (p.Ile1973Phe) in MTOR (P42345) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Isolated focal cortical dysplasia type II. The record also includes structural context.
I1973F (p.Ile1973Phe) variant details
- p.Ile1973Phe
- NCI-TCGA Cosmic COSV6387
- cosmic curated COSV63873
- Ensembl rs2100414473
- Likely pathogenic
- Isolated focal cortical dysplasia type II
- Missense
- ClinVar: Likely pathogenic (Isolated focal cortical dysplasia type II)
- UniProt: Likely pathogenic
- Structural context available