I32T (p.Ile32Thr) variant of DBH (Dopamine beta-hydroxylase)
I32T (p.Ile32Thr) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
I32T (p.Ile32Thr) variant details
- p.Ile32Thr
- gnomAD 9-133636466-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.23
- MetaLR 0.21
- MetaSVM -0.64
- CADD 26.40
- PolyPhen-2 0.62
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available