P2A (p.Pro2Ala) variant of DBH (Dopamine beta-hydroxylase)
P2A (p.Pro2Ala) 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.
P2A (p.Pro2Ala) variant details
- p.Pro2Ala
- gnomAD rs1438146018
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.07
- CADD 3.63
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available