G12D (p.Gly12Asp) variant of DBH (Dopamine beta-hydroxylase)
G12D (p.Gly12Asp) in DBH (Dopamine beta-hydroxylase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and structural context.
G12D (p.Gly12Asp) variant details
- p.Gly12Asp
- NCI-TCGA Cosmic COSV5504
- NCI-TCGA Cosmic COSV9970
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.06
- MetaSVM -1.07
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact. (in dbSNP:rs5318)
- Structural context available