S58F (p.Ser58Phe) variant of DBH (Dopamine beta-hydroxylase)
S58F (p.Ser58Phe) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S58F (p.Ser58Phe) variant details
- p.Ser58Phe
- ExAC rs750763532
- TOPMed rs750763532
- gnomAD rs750763532
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.27
- MetaLR 0.23
- MetaSVM -0.87
- CADD 8.84
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available