S89N (p.Ser89Asn) variant of SLC19A3 (Thiamine transporter 2)
S89N (p.Ser89Asn) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
S89N (p.Ser89Asn) variant details
- p.Ser89Asn
- rs1181303768
- NCI-TCGA Cosmic COSV5145
- cosmic curated COSV51451
- gnomAD rs1181303768
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.42
- ESM-1b 1.00
- AlphaMissense 0.49
- CADD 21.50
- PolyPhen-2 0.87
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available