F111L (p.Phe111Leu) variant of SLC19A3 (Thiamine transporter 2)
F111L (p.Phe111Leu) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
F111L (p.Phe111Leu) variant details
- p.Phe111Leu
- ExAC rs770362150
- gnomAD rs770362150
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.54
- ESM-1b 0.00
- AlphaMissense 0.70
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available