E50A (p.Glu50Ala) variant of SLC19A3 (Thiamine transporter 2)
E50A (p.Glu50Ala) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
E50A (p.Glu50Ala) variant details
- p.Glu50Ala
- ExAC rs749364879
- gnomAD rs749364879
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.47
- ESM-1b 1.00
- AlphaMissense 0.16
- CADD 23.30
- PolyPhen-2 0.30
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available