S89T (p.Ser89Thr) variant of SLC19A3 (Thiamine transporter 2)
S89T (p.Ser89Thr) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
S89T (p.Ser89Thr) variant details
- p.Ser89Thr
- gnomAD rs1181303768
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.18
- ESM-1b 1.00
- AlphaMissense 0.15
- CADD 12.80
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available