A30V (p.Ala30Val) variant of BTD (Biotinidase)
A30V (p.Ala30Val) 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.
A30V (p.Ala30Val) variant details
- p.Ala30Val
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10032
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available