R43C (p.Arg43Cys) variant of DBH (Dopamine beta-hydroxylase)
R43C (p.Arg43Cys) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
R43C (p.Arg43Cys) variant details
- p.Arg43Cys
- 1000Genomes rs146820764
- ESP rs146820764
- ExAC rs146820764
- TOPMed rs146820764
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.12
- MetaLR 0.07
- MetaSVM -1.08
- CADD 12.60
- PolyPhen-2 0.17
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available