A18S (p.Ala18Ser) variant of DBH (Dopamine beta-hydroxylase)
A18S (p.Ala18Ser) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A18S (p.Ala18Ser) variant details
- p.Ala18Ser
- gnomAD 9-133636423-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.12
- MetaLR 0.14
- MetaSVM -0.78
- CADD 22.10
- PolyPhen-2 0.21
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available