A19G (p.Ala19Gly) variant of DBH (Dopamine beta-hydroxylase)
A19G (p.Ala19Gly) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A19G (p.Ala19Gly) variant details
- p.Ala19Gly
- gnomAD rs1300266314
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.14
- MetaLR 0.14
- MetaSVM -0.82
- CADD 22.10
- PolyPhen-2 0.32
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available