P13R (p.Pro13Arg) variant of DBH (Dopamine beta-hydroxylase)
P13R (p.Pro13Arg) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P13R (p.Pro13Arg) variant details
- p.Pro13Arg
- gnomAD rs1832052631
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.10
- MetaLR 0.12
- MetaSVM -0.90
- CADD 22.10
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available