A25T (p.Ala25Thr) variant of DBH (Dopamine beta-hydroxylase)
A25T (p.Ala25Thr) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A25T (p.Ala25Thr) variant details
- p.Ala25Thr
- Ensembl rs2131281112
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.16
- MetaLR 0.11
- MetaSVM -0.90
- CADD 19.60
- PolyPhen-2 0.27
- SIFT 0.27
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available