G12R (p.Gly12Arg) variant of DBH (Dopamine beta-hydroxylase)
G12R (p.Gly12Arg) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
G12R (p.Gly12Arg) variant details
- p.Gly12Arg
- gnomAD 9-133636405-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.088
- REVEL 0.07
- MetaLR 0.05
- MetaSVM -1.07
- CADD 0.23
- PolyPhen-2 0.10
- SIFT 0.16
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available