T47I (p.Thr47Ile) variant of SLC19A3 (Thiamine transporter 2)
T47I (p.Thr47Ile) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
T47I (p.Thr47Ile) variant details
- p.Thr47Ile
- gnomAD rs1272646707
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.48
- CADD 24.70
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available