A19V (p.Ala19Val) variant of DBH (Dopamine beta-hydroxylase)
A19V (p.Ala19Val) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- gnomAD 9-133636427-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.12
- MetaLR 0.11
- MetaSVM -1.03
- CADD 17.30
- PolyPhen-2 0.01
- SIFT 0.37
- Population evidence available
- Structural context available
- Literature evidence available