P48R (p.Pro48Arg) variant of DBH (Dopamine beta-hydroxylase)
P48R (p.Pro48Arg) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P48R (p.Pro48Arg) variant details
- p.Pro48Arg
- TOPMed rs1421390777
- gnomAD rs1421390777
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.24
- MetaLR 0.21
- MetaSVM -0.70
- CADD 22.80
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available