T105S (p.Thr105Ser) variant of SLC19A3 (Thiamine transporter 2)
T105S (p.Thr105Ser) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
T105S (p.Thr105Ser) variant details
- p.Thr105Ser
- gnomAD rs1311096123
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 9.56
- PolyPhen-2 0.07
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.0001)
- Structural context available