G39V (p.Gly39Val) variant of DBH (Dopamine beta-hydroxylase)
G39V (p.Gly39Val) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G39V (p.Gly39Val) variant details
- p.Gly39Val
- 1000Genomes rs562042962
- TOPMed rs562042962
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.32
- MetaLR 0.29
- MetaSVM -0.47
- CADD 23.40
- PolyPhen-2 0.87
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available