G57R (p.Gly57Arg) variant of DBH (Dopamine beta-hydroxylase)
G57R (p.Gly57Arg) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
G57R (p.Gly57Arg) variant details
- p.Gly57Arg
- TOPMed rs200561151
- gnomAD rs200561151
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.50
- MetaLR 0.54
- MetaSVM 0.11
- CADD 23.70
- PolyPhen-2 0.53
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available