I32F (p.Ile32Phe) variant of DBH (Dopamine beta-hydroxylase)
I32F (p.Ile32Phe) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
I32F (p.Ile32Phe) variant details
- p.Ile32Phe
- gnomAD 9-133636465-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.21
- MetaLR 0.16
- MetaSVM -0.77
- CADD 24.50
- PolyPhen-2 0.45
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available