S9N (p.Ser9Asn) variant of SLC19A3 (Thiamine transporter 2)
S9N (p.Ser9Asn) 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 Biotin-responsive basal ganglia disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S9N (p.Ser9Asn) variant details
- p.Ser9Asn
- rs1373557684
- ClinGen CA350878110
- ClinVar RCV001211359
- TOPMed rs1373557684
- Uncertain significance
- Biotin-responsive basal ganglia disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 9.50
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Uncertain significance (Biotin-responsive basal ganglia disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)