R6H (p.Arg6His) variant of DBH (Dopamine beta-hydroxylase)
R6H (p.Arg6His) 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 Inborn genetic diseases; Orthostatic hypotension 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
R6H (p.Arg6His) variant details
- p.Arg6His
- rs781667738
- ClinGen CA5312930
- ClinVar RCV001220018
- ClinVar RCV002562493
- Uncertain significance
- Inborn genetic diseases; Orthostatic hypotension 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.04
- MetaLR 0.07
- MetaSVM -1.03
- CADD 8.96
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases; Orthostatic hypotension 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)