S45R (p.Ser45Arg) variant of DBH (Dopamine beta-hydroxylase)
S45R (p.Ser45Arg) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S45R (p.Ser45Arg) variant details
- p.Ser45Arg
- gnomAD rs1482117226
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.12
- MetaLR 0.10
- MetaSVM -1.01
- CADD 12.30
- PolyPhen-2 0.22
- SIFT 0.19
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available