P13T (p.Pro13Thr) variant of DBH (Dopamine beta-hydroxylase)
P13T (p.Pro13Thr) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P13T (p.Pro13Thr) variant details
- p.Pro13Thr
- 1000Genomes rs201797804
- ExAC rs201797804
- TOPMed rs201797804
- gnomAD rs201797804
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.06
- MetaLR 0.09
- MetaSVM -1.00
- CADD 14.30
- PolyPhen-2 0.15
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available