I51M (p.Ile51Met) variant of DBH (Dopamine beta-hydroxylase)
I51M (p.Ile51Met) 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
I51M (p.Ile51Met) variant details
- p.Ile51Met
- rs1832054587
- ClinGen CA375407038
- ClinVar RCV001169429
- Ensembl rs1832054587
- Uncertain significance
- Orthostatic hypotension 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.13
- MetaLR 0.18
- MetaSVM -0.91
- CADD 13.00
- PolyPhen-2 0.79
- SIFT 0.13
- ClinVar: Uncertain significance (Orthostatic hypotension 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Cited in: Dopamine Beta-Hydroxylase Deficiency. (PMID 20301647)