E54K (p.Glu54Lys) variant of SLC19A3 (Thiamine transporter 2)
E54K (p.Glu54Lys) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
E54K (p.Glu54Lys) variant details
- p.Glu54Lys
- cosmic curated COSV51452
- Ensembl rs1695594361
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.46
- ESM-1b 1.00
- AlphaMissense 0.08
- CADD 23.60
- PolyPhen-2 0.75
- SIFT 0.11
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available