Y61* (p.Tyr61Ter) variant of SLC19A3 (Thiamine transporter 2)
Y61* (p.Tyr61Ter) in SLC19A3 (Thiamine transporter 2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
Y61* (p.Tyr61Ter) variant details
- p.Tyr61Ter
- TOPMed rs1695592894
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.478
- CADD 36.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available