G41E (p.Gly41Glu) variant of SLC19A3 (Thiamine transporter 2)
G41E (p.Gly41Glu) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
G41E (p.Gly41Glu) variant details
- p.Gly41Glu
- gnomAD rs1695723186
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.62
- ESM-1b 1.00
- AlphaMissense 0.12
- CADD 22.00
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available