I32V (p.Ile32Val) variant of DBH (Dopamine beta-hydroxylase)
I32V (p.Ile32Val) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
I32V (p.Ile32Val) variant details
- p.Ile32Val
- gnomAD 9-133636465-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.14
- MetaLR 0.14
- MetaSVM -0.81
- CADD 20.30
- PolyPhen-2 0.19
- SIFT 0.09
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available