P55A (p.Pro55Ala) variant of DBH (Dopamine beta-hydroxylase)
P55A (p.Pro55Ala) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
P55A (p.Pro55Ala) variant details
- p.Pro55Ala
- TOPMed rs1160873680
- gnomAD rs1160873680
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.29
- MetaLR 0.32
- MetaSVM -0.43
- CADD 21.10
- PolyPhen-2 0.84
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available