M21V (p.Met21Val) variant of DBH (Dopamine beta-hydroxylase)
M21V (p.Met21Val) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
M21V (p.Met21Val) variant details
- p.Met21Val
- rs1381096496
- ClinGen CA375406557
- ClinVar RCV001168666
- gnomAD rs1381096496
- Uncertain significance
- Orthostatic hypotension 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.12
- MetaLR 0.13
- MetaSVM -0.95
- CADD 18.30
- PolyPhen-2 0.02
- SIFT 0.17
- 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)