A25S (p.Ala25Ser) variant of DBH (Dopamine beta-hydroxylase)
A25S (p.Ala25Ser) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A25S (p.Ala25Ser) variant details
- p.Ala25Ser
- gnomAD 9-133636444-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.12
- MetaLR 0.10
- MetaSVM -1.01
- CADD 16.60
- PolyPhen-2 0.05
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available