W94* (p.Trp94Ter) variant of SLC19A3 (Thiamine transporter 2)
W94* (p.Trp94Ter) in SLC19A3 (Thiamine transporter 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
W94* (p.Trp94Ter) variant details
- p.Trp94Ter
- rs2106315874
- gnomAD 2-227686166-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.41
- CADD 3.22
- Population evidence available
- Structural context available
- Literature evidence available