L64Q (p.Leu64Gln) variant of SLC19A3 (Thiamine transporter 2)
L64Q (p.Leu64Gln) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
L64Q (p.Leu64Gln) variant details
- p.Leu64Gln
- TOPMed rs1484028218
- gnomAD rs1484028218
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.76
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available