L47S (p.Leu47Ser) variant of DBH (Dopamine beta-hydroxylase)
L47S (p.Leu47Ser) in DBH (Dopamine beta-hydroxylase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes variant effect predictions and structural context.
L47S (p.Leu47Ser) variant details
- p.Leu47Ser
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- MetaLR 0.09
- MetaSVM -1.05
- SIFT 0.05
- UniProt: Variant assessed as somatic; high impact.
- Structural context available