R6S (p.Arg6Ser) variant of DBH (Dopamine beta-hydroxylase)
R6S (p.Arg6Ser) in DBH (Dopamine beta-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Orthostatic hypotension 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R6S (p.Arg6Ser) variant details
- p.Arg6Ser
- rs111514228
- ClinGen CA5312928
- ClinVar RCV001168665
- 1000Genomes rs111514228
- Uncertain significance
- Orthostatic hypotension 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.07
- MetaLR 0.04
- MetaSVM -1.07
- CADD 4.56
- PolyPhen-2 0.02
- SIFT 0.22
- ClinVar: Uncertain significance (Orthostatic hypotension 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Cited in: Dopamine Beta-Hydroxylase Deficiency. (PMID 20301647)