G284R (p.Gly284Arg) variant of SLC6A19 (Q695T7)
G284R (p.Gly284Arg) in SLC6A19 (Q695T7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Neutral 1 amino acid transport defect; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G284R (p.Gly284Arg) variant details
- p.Gly284Arg
- rs200842846
- ClinGen CA3182918
- ClinVar RCV002651874
- ClinVar RCV005034829
- Pathogenic/Likely pathogenic
- Neutral 1 amino acid transport defect; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Neutral 1 amino acid transport defect; not provided)
- EBI: Pathogenic (in HND)
- UniProt: Pathogenic (in HND)
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available
- Cited in: Further evidence for allelic heterogeneity in Hartnup disorder. (PMID 18484095)
- Cited in: Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder. (PMID 15286787)