K38* (p.Lys38Ter) variant of SLC6A19 (Q695T7)
K38* (p.Lys38Ter) in SLC6A19 (Q695T7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
K38* (p.Lys38Ter) variant details
- p.Lys38Ter
- gnomAD rs1411775681
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.699
- CADD 46.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available