D43N (p.Asp43Asn) variant of SLC19A3 (Thiamine transporter 2)
D43N (p.Asp43Asn) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
D43N (p.Asp43Asn) variant details
- p.Asp43Asn
- rs773678018
- ClinGen CA2149403
- ClinVar RCV001870188
- ExAC rs773678018
- Uncertain significance
- Biotin-responsive basal ganglia disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.36
- ESM-1b 1.00
- AlphaMissense 0.07
- CADD 16.20
- PolyPhen-2 0.81
- SIFT 0.11
- ClinVar: Uncertain significance (Biotin-responsive basal ganglia disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)