G12S (p.Gly12Ser) variant of DBH (Dopamine beta-hydroxylase)
G12S (p.Gly12Ser) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
G12S (p.Gly12Ser) variant details
- p.Gly12Ser
- rs5318
- UniProt VAR 048838
- ESP rs5318
- ExAC rs5318
- Missense
- Variant Prioritization Score for Impact Estimate 0.0843
- REVEL 0.05
- MetaLR 0.02
- MetaSVM -1.06
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available