R57C (p.Arg57Cys) variant of SLC6A19 (Q695T7)
R57C (p.Arg57Cys) in SLC6A19 (Q695T7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Neutral 1 amino acid transport defect; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R57C (p.Arg57Cys) variant details
- p.Arg57Cys
- rs762989809
- ClinGen CA3182581
- ClinVar RCV003230934
- ClinVar RCV003561254
- Conflicting interpretations
- Neutral 1 amino acid transport defect; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.67
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Neutral 1 amino acid transport defect; not provided)
- EBI: Pathogenic (in HND)
- UniProt: Pathogenic (in HND)
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Structural context available
- Cited in: Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder. (PMID 15286787)
- Cited in: Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations. (PMID 19185582)