Q38R (p.Gln38Arg) variant of DBH (Dopamine beta-hydroxylase)
Q38R (p.Gln38Arg) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
Q38R (p.Gln38Arg) variant details
- p.Gln38Arg
- gnomAD 9-133636484-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.14
- MetaLR 0.11
- MetaSVM -1.04
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available