L39S (p.Leu39Ser) variant of SLC19A3 (Thiamine transporter 2)
L39S (p.Leu39Ser) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
L39S (p.Leu39Ser) variant details
- p.Leu39Ser
- Ensembl rs1695723600
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- ESM-1b 1.00
- AlphaMissense 0.89
- CADD 3.69
- Population evidence available
- Structural context available