A3V (p.Ala3Val) variant of DBH (Dopamine beta-hydroxylase)
A3V (p.Ala3Val) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- gnomAD 9-133636379-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.088
- REVEL 0.05
- MetaLR 0.07
- MetaSVM -1.03
- CADD 3.31
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available