A3T (p.Ala3Thr) variant of DBH (Dopamine beta-hydroxylase)
A3T (p.Ala3Thr) in DBH (Dopamine beta-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- ExAC rs758863303
- TOPMed rs758863303
- gnomAD rs758863303
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.04
- MetaLR 0.07
- MetaSVM -1.05
- CADD 8.09
- PolyPhen-2 0.00
- SIFT 0.23
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available