P46L (p.Pro46Leu) variant of DBH (Dopamine beta-hydroxylase)
P46L (p.Pro46Leu) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P46L (p.Pro46Leu) variant details
- p.Pro46Leu
- gnomAD rs944060307
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.15
- MetaLR 0.09
- MetaSVM -1.07
- CADD 13.60
- PolyPhen-2 0.01
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available