A41T (p.Ala41Thr) variant of DBH (Dopamine beta-hydroxylase)
A41T (p.Ala41Thr) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A41T (p.Ala41Thr) variant details
- p.Ala41Thr
- TOPMed rs1227149719
- gnomAD rs1227149719
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.06
- MetaLR 0.09
- MetaSVM -1.02
- CADD 10.90
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available