S5R (p.Ser5Arg) variant of DBH (Dopamine beta-hydroxylase)
S5R (p.Ser5Arg) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
S5R (p.Ser5Arg) variant details
- p.Ser5Arg
- gnomAD 9-133636384-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0612
- REVEL 0.01
- MetaLR 0.05
- MetaSVM -1.04
- CADD 0.26
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available