S5I (p.Ser5Ile) variant of DBH (Dopamine beta-hydroxylase)
S5I (p.Ser5Ile) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
S5I (p.Ser5Ile) variant details
- p.Ser5Ile
- gnomAD rs1357908813
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.01
- MetaLR 0.06
- MetaSVM -1.05
- CADD 4.10
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available