Q38H (p.Gln38His) variant of DBH (Dopamine beta-hydroxylase)
Q38H (p.Gln38His) 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.
Q38H (p.Gln38His) variant details
- p.Gln38His
- gnomAD 9-133636485-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.13
- MetaLR 0.21
- MetaSVM -0.74
- CADD 24.20
- PolyPhen-2 0.74
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available