S89R (p.Ser89Arg) variant of SLC19A3 (Thiamine transporter 2)
S89R (p.Ser89Arg) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Biotin-responsive basal ganglia disease; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
S89R (p.Ser89Arg) variant details
- p.Ser89Arg
- rs759807393
- ClinGen CA2149341
- ClinVar RCV000656114
- ClinVar RCV004782411
- Conflicting interpretations
- Biotin-responsive basal ganglia disease; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 23.10
- PolyPhen-2 0.88
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Biotin-responsive basal ganglia disease; not specified)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)