I91F (p.Ile91Phe) variant of SLC19A3 (Thiamine transporter 2)
I91F (p.Ile91Phe) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
I91F (p.Ile91Phe) variant details
- p.Ile91Phe
- Ensembl rs1695586986
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.29
- ESM-1b 1.00
- AlphaMissense 0.19
- CADD 12.80
- PolyPhen-2 0.08
- SIFT 0.14
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available