E501K (p.Glu501Lys) variant of SLC6A19 (Q695T7)
E501K (p.Glu501Lys) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
E501K (p.Glu501Lys) variant details
- p.Glu501Lys
- rs1236852017
- ClinGen CA359075496
- ClinVar RCV002651875
- ClinVar RCV005034830
- Pathogenic/Likely pathogenic
- Neutral 1 amino acid transport defect; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.67
- CADD 31.00
- PolyPhen-2 0.98
- 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 African/African-American population (allele frequency 3e-05)
- 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: Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations. (PMID 19185582)