G39D (p.Gly39Asp) variant of DBH (Dopamine beta-hydroxylase)
G39D (p.Gly39Asp) in DBH (Dopamine beta-hydroxylase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
G39D (p.Gly39Asp) variant details
- p.Gly39Asp
- NCI-TCGA Cosmic COSV9970
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.28
- MetaLR 0.31
- MetaSVM -0.45
- CADD 24.80
- PolyPhen-2 0.95
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available