S89G (p.Ser89Gly) variant of SLC19A3 (Thiamine transporter 2)
S89G (p.Ser89Gly) 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 0.33 / 1. The record also includes population frequency data and structural context.
S89G (p.Ser89Gly) variant details
- p.Ser89Gly
- ExAC rs759807393
- gnomAD rs759807393
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.27
- ESM-1b 1.00
- AlphaMissense 0.09
- CADD 13.20
- PolyPhen-2 0.03
- SIFT 0.11
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available