P46T (p.Pro46Thr) variant of DBH (Dopamine beta-hydroxylase)
P46T (p.Pro46Thr) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
P46T (p.Pro46Thr) variant details
- p.Pro46Thr
- TOPMed rs1028535785
- gnomAD rs1028535785
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.07
- MetaLR 0.11
- MetaSVM -1.02
- CADD 14.00
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available