G102E (p.Gly102Glu) variant of SLC19A3 (Thiamine transporter 2)
G102E (p.Gly102Glu) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
G102E (p.Gly102Glu) variant details
- p.Gly102Glu
- ExAC rs768496977
- gnomAD rs768496977
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.55
- ESM-1b 1.00
- AlphaMissense 0.20
- CADD 25.40
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available