A18V (p.Ala18Val) variant of DBH (Dopamine beta-hydroxylase)
A18V (p.Ala18Val) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- gnomAD 9-133636424-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.14
- MetaLR 0.06
- MetaSVM -1.05
- CADD 12.20
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available