M21T (p.Met21Thr) variant of DBH (Dopamine beta-hydroxylase)
M21T (p.Met21Thr) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
M21T (p.Met21Thr) variant details
- p.Met21Thr
- rs770621845
- ClinGen CA5312940
- ClinVar RCV002007764
- ExAC rs770621845
- Uncertain significance
- Orthostatic hypotension 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.32
- AlphaMissense 0.19
- MetaLR 0.18
- MetaSVM -0.69
- CADD 23.30
- PolyPhen-2 0.92
- ClinVar: Uncertain significance (Orthostatic hypotension 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Dopamine Beta-Hydroxylase Deficiency. (PMID 20301647)