A1519V (p.Ala1519Val) variant of MTOR (P42345)
A1519V (p.Ala1519Val) in MTOR (P42345) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of CEBALID syndrome. The record also includes published literature and structural context.
A1519V (p.Ala1519Val) variant details
- p.Ala1519Val
- rs1644090272
- ClinGen CA338369625
- ClinVar RCV001260506
- NCI-TCGA TCGA novel
- Likely pathogenic
- CEBALID syndrome
- Missense
- ClinVar: Likely pathogenic (CEBALID syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)