R6C (p.Arg6Cys) variant of DBH (Dopamine beta-hydroxylase)
R6C (p.Arg6Cys) in DBH (Dopamine beta-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
R6C (p.Arg6Cys) variant details
- p.Arg6Cys
- 1000Genomes rs111514228
- ExAC rs111514228
- TOPMed rs111514228
- gnomAD rs111514228
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.06
- CADD 9.65
- PolyPhen-2 0.00
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available