L33P (p.Leu33Pro) variant of DBH (Dopamine beta-hydroxylase)
L33P (p.Leu33Pro) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
L33P (p.Leu33Pro) variant details
- p.Leu33Pro
- gnomAD rs1832053524
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.76
- MetaLR 0.36
- MetaSVM -0.26
- CADD 28.90
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available