S62C (p.Ser62Cys) variant of SLC19A3 (Thiamine transporter 2)
S62C (p.Ser62Cys) 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 0.82 / 1. The record also includes population frequency data and structural context.
S62C (p.Ser62Cys) variant details
- p.Ser62Cys
- TOPMed rs1266097365
- gnomAD rs1266097365
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.19
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available