G57A (p.Gly57Ala) variant of DBH (Dopamine beta-hydroxylase)
G57A (p.Gly57Ala) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G57A (p.Gly57Ala) variant details
- p.Gly57Ala
- ExAC rs533854976
- TOPMed rs533854976
- gnomAD rs533854976
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.33
- MetaLR 0.42
- MetaSVM -0.45
- CADD 15.20
- PolyPhen-2 0.07
- SIFT 0.11
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available