R43H (p.Arg43His) variant of DBH (Dopamine beta-hydroxylase)
R43H (p.Arg43His) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
R43H (p.Arg43His) variant details
- p.Arg43His
- rs779109570
- ClinGen CA5312955
- ClinVar RCV001169428
- ClinVar RCV004032913
- Uncertain significance
- Inborn genetic diseases; Orthostatic hypotension 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.11
- MetaLR 0.06
- MetaSVM -1.04
- CADD 11.80
- PolyPhen-2 0.12
- SIFT 0.18
- ClinVar: Uncertain significance (Inborn genetic diseases; Orthostatic hypotension 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- 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)