P46A (p.Pro46Ala) variant of DBH (Dopamine beta-hydroxylase)
P46A (p.Pro46Ala) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
P46A (p.Pro46Ala) variant details
- p.Pro46Ala
- TOPMed rs1028535785
- gnomAD rs1028535785
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.06
- MetaLR 0.08
- MetaSVM -1.04
- CADD 13.30
- PolyPhen-2 0.06
- SIFT 0.15
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available