P55T (p.Pro55Thr) variant of DBH (Dopamine beta-hydroxylase)
P55T (p.Pro55Thr) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
P55T (p.Pro55Thr) variant details
- p.Pro55Thr
- TOPMed rs1160873680
- gnomAD rs1160873680
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.39
- MetaLR 0.35
- MetaSVM -0.31
- CADD 22.00
- PolyPhen-2 0.95
- SIFT 0.03
- Population evidence available
- Structural context available