S48I (p.Ser48Ile) variant of SLC19A3 (Thiamine transporter 2)
S48I (p.Ser48Ile) 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.
S48I (p.Ser48Ile) variant details
- p.Ser48Ile
- ExAC rs768551143
- TOPMed rs768551143
- gnomAD rs768551143
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 3.44
- PolyPhen-2 0.01
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available