G57V (p.Gly57Val) variant of DBH (Dopamine beta-hydroxylase)
G57V (p.Gly57Val) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G57V (p.Gly57Val) variant details
- p.Gly57Val
- ExAC rs533854976
- TOPMed rs533854976
- gnomAD rs533854976
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.53
- MetaLR 0.49
- MetaSVM -0.26
- CADD 19.60
- PolyPhen-2 0.16
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available