A27T (p.Ala27Thr) variant of DBH (Dopamine beta-hydroxylase)
A27T (p.Ala27Thr) 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, published literature, and structural context.
A27T (p.Ala27Thr) variant details
- p.Ala27Thr
- gnomAD 9-133636450-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.14
- MetaLR 0.28
- MetaSVM -0.57
- CADD 27.10
- PolyPhen-2 0.83
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available