C49* (p.Cys49Ter) variant of SLC6A19 (Q695T7)
C49* (p.Cys49Ter) in SLC6A19 (Q695T7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
C49* (p.Cys49Ter) variant details
- p.Cys49Ter
- gnomAD 5-1201797-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.343
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available