C20S (p.Cys20Ser) variant of SLC19A3 (Thiamine transporter 2)
C20S (p.Cys20Ser) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
C20S (p.Cys20Ser) variant details
- p.Cys20Ser
- rs1287862643
- ClinGen CA350878039
- ClinVar RCV003329918
- gnomAD rs1287862643
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.72
- ESM-1b 0.86
- AlphaMissense 0.43
- CADD 23.30
- PolyPhen-2 0.82
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available