F24I (p.Phe24Ile) variant of SLC19A3 (Thiamine transporter 2)
F24I (p.Phe24Ile) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
F24I (p.Phe24Ile) variant details
- p.Phe24Ile
- gnomAD rs1272375245
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.34
- CADD 24.80
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available