N53T (p.Asn53Thr) variant of SLC19A3 (Thiamine transporter 2)
N53T (p.Asn53Thr) 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 0.69 / 1. The record also includes published literature and structural context.
N53T (p.Asn53Thr) variant details
- p.Asn53Thr
- rs2106329724
- ClinGen CA350877812
- ClinVar RCV001884589
- Ensembl rs2106329724
- Uncertain significance
- Biotin-responsive basal ganglia disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- ESM-1b 1.00
- AlphaMissense 0.13
- MetaLR 0.69
- MetaSVM 0.25
- PolyPhen-2 0.98
- SIFT 0.03
- ClinVar: Uncertain significance (Biotin-responsive basal ganglia disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)