I51N (p.Ile51Asn) variant of DBH (Dopamine beta-hydroxylase)
I51N (p.Ile51Asn) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
I51N (p.Ile51Asn) variant details
- p.Ile51Asn
- gnomAD 9-133636523-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.27
- MetaLR 0.26
- MetaSVM -0.69
- CADD 23.80
- PolyPhen-2 0.79
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available