D2N (p.Asp2Asn) variant of SLC19A3 (Thiamine transporter 2)
D2N (p.Asp2Asn) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
D2N (p.Asp2Asn) variant details
- p.Asp2Asn
- rs747378211
- ClinGen CA2149420
- ClinVar RCV000805176
- ClinVar RCV006250871
- Uncertain significance
- Biotin-responsive basal ganglia disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Uncertain significance (Biotin-responsive basal ganglia disease; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)