L39V (p.Leu39Val) variant of SLC19A3 (Thiamine transporter 2)
L39V (p.Leu39Val) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
L39V (p.Leu39Val) variant details
- p.Leu39Val
- gnomAD rs1275760674
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.23
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available