V26M (p.Val26Met) variant of DBH (Dopamine beta-hydroxylase)
V26M (p.Val26Met) in DBH (Dopamine beta-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Orthostatic hypotension 1; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
V26M (p.Val26Met) variant details
- p.Val26Met
- rs76856960
- ClinGen CA5312943
- ClinVar RCV000960610
- ClinVar RCV003883513
- Benign/Likely benign
- Orthostatic hypotension 1; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.14
- MetaLR 0.14
- MetaSVM -0.81
- CADD 24.50
- PolyPhen-2 0.49
- SIFT 0.10
- ClinVar: Benign/Likely benign (Orthostatic hypotension 1; not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: Dopamine Beta-Hydroxylase Deficiency. (PMID 20301647)