D173N (p.Asp173Asn) variant of SLC6A19 (Q695T7)
D173N (p.Asp173Asn) in SLC6A19 (Q695T7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of SLC6A19-related disorder; Iminoglycinuria; Hyperglycinuria. 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.
D173N (p.Asp173Asn) variant details
- p.Asp173Asn
- rs121434346
- ClinGen CA115307
- ClinVar RCV000002096
- ClinVar RCV000413766
- Pathogenic/Likely pathogenic
- SLC6A19-related disorder; Iminoglycinuria; Hyperglycinuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 22.30
- PolyPhen-2 0.05
- SIFT 0.45
- ClinVar: Pathogenic/Likely pathogenic (SLC6A19-related disorder; Iminoglycinuria; Hyperglycinuria)
- EBI: Pathogenic (in HND)
- UniProt: Pathogenic (in HND)
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available
- Cited in: Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19. (PMID 15286788)
- Cited in: Further evidence for allelic heterogeneity in Hartnup disorder. (PMID 18484095)