E20* (p.Glu20Ter) variant of SLC6A3 (Q01959)
E20* (p.Glu20Ter) in SLC6A3 (Q01959) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
E20* (p.Glu20Ter) variant details
- p.Glu20Ter
- ESP rs375145087
- ExAC rs375145087
- TOPMed rs375145087
- gnomAD rs375145087
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.814
- CADD 38.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available