L4F (p.Leu4Phe) variant of DBH (Dopamine beta-hydroxylase)
L4F (p.Leu4Phe) 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 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
L4F (p.Leu4Phe) variant details
- p.Leu4Phe
- rs2538334073
- ClinGen CA375406049
- ClinVar RCV002667116
- Uncertain significance
- Orthostatic hypotension 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.03
- MetaLR 0.07
- MetaSVM -1.04
- CADD 3.57
- PolyPhen-2 0.02
- SIFT 0.41
- ClinVar: Uncertain significance (Orthostatic hypotension 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Dopamine Beta-Hydroxylase Deficiency. (PMID 20301647)