T93S (p.Thr93Ser) variant of SLC19A3 (Thiamine transporter 2)
T93S (p.Thr93Ser) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
T93S (p.Thr93Ser) variant details
- p.Thr93Ser
- ExAC rs761757947
- gnomAD rs761757947
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 13.10
- PolyPhen-2 0.30
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available