R16Q (p.Arg16Gln) variant of DBH (Dopamine beta-hydroxylase)
R16Q (p.Arg16Gln) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R16Q (p.Arg16Gln) variant details
- p.Arg16Gln
- rs963604579
- ClinGen CA200951555
- ClinVar RCV001906961
- Ensembl rs963604579
- Uncertain significance
- Orthostatic hypotension 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.15
- MetaLR 0.12
- MetaSVM -0.99
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 0.62
- ClinVar: Uncertain significance (Orthostatic hypotension 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: Dopamine Beta-Hydroxylase Deficiency. (PMID 20301647)