A8T (p.Ala8Thr) variant of DBH (Dopamine beta-hydroxylase)
A8T (p.Ala8Thr) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- ExAC rs746061650
- gnomAD rs746061650
- Missense
- Variant Prioritization Score for Impact Estimate 0.0739
- REVEL 0.03
- MetaLR 0.05
- MetaSVM -1.00
- CADD 0.99
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available