M21R (p.Met21Arg) variant of DBH (Dopamine beta-hydroxylase)
M21R (p.Met21Arg) 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 0.38 / 1. The record also includes published literature and structural context.
M21R (p.Met21Arg) variant details
- p.Met21Arg
- rs770621845
- ClinGen CA375406573
- ClinVar RCV003863216
- Uncertain significance
- Orthostatic hypotension 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- AlphaMissense 0.19
- MetaLR 0.18
- MetaSVM -0.69
- PolyPhen-2 0.92
- SIFT 0.00
- MutPred 0.38
- ClinVar: Uncertain significance (Orthostatic hypotension 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dopamine Beta-Hydroxylase Deficiency. (PMID 20301647)