P52T (p.Pro52Thr) variant of DBH (Dopamine beta-hydroxylase)
P52T (p.Pro52Thr) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P52T (p.Pro52Thr) variant details
- p.Pro52Thr
- gnomAD 9-133636525-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.18
- MetaLR 0.15
- MetaSVM -0.85
- CADD 17.00
- PolyPhen-2 0.22
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available