I84M (p.Ile84Met) variant of SLC19A3 (Thiamine transporter 2)
I84M (p.Ile84Met) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
I84M (p.Ile84Met) variant details
- p.Ile84Met
- TOPMed rs1464287492
- gnomAD rs1464287492
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.42
- ESM-1b 1.00
- AlphaMissense 0.10
- CADD 14.00
- PolyPhen-2 0.46
- SIFT 0.26
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available