E50K (p.Glu50Lys) variant of SLC19A3 (Thiamine transporter 2)
E50K (p.Glu50Lys) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
E50K (p.Glu50Lys) variant details
- p.Glu50Lys
- gnomAD rs1131691902
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.36
- ESM-1b 1.00
- AlphaMissense 0.10
- CADD 7.30
- PolyPhen-2 0.02
- SIFT 0.08
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available