S5G (p.Ser5Gly) variant of DBH (Dopamine beta-hydroxylase)
S5G (p.Ser5Gly) 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 and structural context.
S5G (p.Ser5Gly) variant details
- p.Ser5Gly
- ExAC rs778274517
- gnomAD rs778274517
- Missense
- Variant Prioritization Score for Impact Estimate 0.0631
- REVEL 0.02
- MetaLR 0.06
- MetaSVM -1.05
- CADD 0.50
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available