F25S (p.Phe25Ser) variant of SLC19A3 (Thiamine transporter 2)
F25S (p.Phe25Ser) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
F25S (p.Phe25Ser) variant details
- p.Phe25Ser
- Ensembl rs1574565470
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.31
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available