E34G (p.Glu34Gly) variant of BTD (Biotinidase)
E34G (p.Glu34Gly) in BTD (Biotinidase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
E34G (p.Glu34Gly) variant details
- p.Glu34Gly
- NCI-TCGA Cosmic COSV5772
- cosmic curated COSV57729
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available