E50D (p.Glu50Asp) variant of OPTN (Optineurin)
E50D (p.Glu50Asp) in OPTN (Optineurin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in GLC1E. The record also includes structural context.
E50D (p.Glu50Asp) variant details
- p.Glu50Asp
- NCI-TCGA Cosmic COSV5381
- cosmic curated COSV53813
- Variant assessed as somatic; moderate impact.
- in GLC1E
- Missense
- UniProt: Variant assessed as somatic; moderate impact. (in GLC1E)
- Structural context available