D75N (p.Asp75Asn) variant of SLC19A3 (Thiamine transporter 2)
D75N (p.Asp75Asn) 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 not provided; Biotin-responsive basal ganglia disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
D75N (p.Asp75Asn) variant details
- p.Asp75Asn
- rs980641322
- ClinGen CA66660892
- NCI-TCGA Cosmic COSV9929
- cosmic curated COSV99295
- Conflicting interpretations
- not provided; Biotin-responsive basal ganglia disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.86
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Biotin-responsive basal ganglia disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)