F112L (p.Phe112Leu) variant of SLC19A3 (Thiamine transporter 2)
F112L (p.Phe112Leu) 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 0.35 / 1. The record also includes population frequency data and structural context.
F112L (p.Phe112Leu) variant details
- p.Phe112Leu
- Ensembl rs2106329430
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.32
- ESM-1b 0.80
- AlphaMissense 0.47
- MetaLR 0.35
- MetaSVM -0.57
- CADD 16.80
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available