L47F (p.Leu47Phe) variant of DBH (Dopamine beta-hydroxylase)
L47F (p.Leu47Phe) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
L47F (p.Leu47Phe) variant details
- p.Leu47Phe
- ExAC rs776251904
- gnomAD rs776251904
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.07
- MetaLR 0.04
- MetaSVM -0.98
- CADD 1.53
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available