V101M (p.Val101Met) variant of DBH (Dopamine beta-hydroxylase)
V101M (p.Val101Met) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
V101M (p.Val101Met) variant details
- p.Val101Met
- rs267606760
- ClinGen CA347623
- ClinVar RCV000001822
- ClinVar RCV000201816
- Uncertain significance
- Orthostatic hypotension 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.47
- MetaLR 0.61
- MetaSVM 0.24
- CADD 22.40
- PolyPhen-2 0.83
- SIFT 0.02
- ClinVar: Uncertain significance (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)