W7R (p.Trp7Arg) variant of DBH (Dopamine beta-hydroxylase)
W7R (p.Trp7Arg) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
W7R (p.Trp7Arg) variant details
- p.Trp7Arg
- gnomAD 9-133636390-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.02
- CADD 9.84
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available