S9N (p.Ser9Asn) variant of DBH (Dopamine beta-hydroxylase)
S9N (p.Ser9Asn) 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 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
S9N (p.Ser9Asn) variant details
- p.Ser9Asn
- rs1191237522
- ClinGen CA375406198
- NCI-TCGA Cosmic COSV9970
- ClinVar RCV002033649
- Uncertain significance
- Orthostatic hypotension 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.03
- MetaLR 0.11
- MetaSVM -1.00
- CADD 2.98
- PolyPhen-2 0.00
- SIFT 0.12
- 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)