E44K (p.Glu44Lys) variant of DBH (Dopamine beta-hydroxylase)
E44K (p.Glu44Lys) in DBH (Dopamine beta-hydroxylase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
E44K (p.Glu44Lys) variant details
- p.Glu44Lys
- ExAC rs746901698
- gnomAD rs746901698
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.07
- MetaLR 0.08
- MetaSVM -1.04
- CADD 8.02
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available