R43G (p.Arg43Gly) variant of DBH (Dopamine beta-hydroxylase)
R43G (p.Arg43Gly) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
R43G (p.Arg43Gly) variant details
- p.Arg43Gly
- 1000Genomes rs146820764
- ESP rs146820764
- ExAC rs146820764
- TOPMed rs146820764
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.12
- MetaLR 0.07
- MetaSVM -1.03
- CADD 3.04
- PolyPhen-2 0.01
- SIFT 0.41
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available