T16I (p.Thr16Ile) variant of SLC19A3 (Thiamine transporter 2)
T16I (p.Thr16Ile) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
T16I (p.Thr16Ile) variant details
- p.Thr16Ile
- NCI-TCGA Cosmic COSV5145
- cosmic curated COSV51451
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.60
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available