D345N (p.Asp345Asn) variant of DBH (Dopamine beta-hydroxylase)
D345N (p.Asp345Asn) in DBH (Dopamine beta-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Orthostatic hypotension 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
D345N (p.Asp345Asn) variant details
- p.Asp345Asn
- rs267606761
- ClinGen CA347616
- ClinVar RCV000001822
- ClinVar RCV000201811
- Conflicting interpretations
- Orthostatic hypotension 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.63
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Orthostatic hypotension 1)
- EBI: Pathogenic (in ORTHYP1)
- UniProt: Pathogenic (in ORTHYP1)
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Cited in: Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency. (PMID 11857564)
- Cited in: Dopamine Beta-Hydroxylase Deficiency. (PMID 20301647)