R78L (p.Arg78Leu) variant of SLC19A3 (Thiamine transporter 2)
R78L (p.Arg78Leu) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
R78L (p.Arg78Leu) variant details
- p.Arg78Leu
- ExAC rs757743169
- TOPMed rs757743169
- gnomAD rs757743169
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.70
- ESM-1b 1.00
- AlphaMissense 0.29
- CADD 23.70
- PolyPhen-2 0.89
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available