P46S (p.Pro46Ser) variant of DBH (Dopamine beta-hydroxylase)
P46S (p.Pro46Ser) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
P46S (p.Pro46Ser) variant details
- p.Pro46Ser
- TOPMed rs1028535785
- gnomAD rs1028535785
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.05
- MetaLR 0.08
- MetaSVM -1.04
- CADD 14.10
- PolyPhen-2 0.01
- SIFT 0.30
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available