E110Q (p.Glu110Gln) variant of SLC19A3 (Thiamine transporter 2)
E110Q (p.Glu110Gln) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
E110Q (p.Glu110Gln) variant details
- p.Glu110Gln
- cosmic curated COSV10725
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 22.80
- PolyPhen-2 0.82
- SIFT 0.26
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available