Q40* (p.Gln40Ter) variant of SLC6A19 (Q695T7)
Q40* (p.Gln40Ter) in SLC6A19 (Q695T7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
Q40* (p.Gln40Ter) variant details
- p.Gln40Ter
- TOPMed rs1294354065
- gnomAD rs1294354065
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.834
- CADD 42.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available