D517G (p.Asp517Gly) variant of SLC6A19 (Q695T7)
D517G (p.Asp517Gly) in SLC6A19 (Q695T7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neutral 1 amino acid transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
D517G (p.Asp517Gly) variant details
- p.Asp517Gly
- rs745524993
- ClinGen CA3183226
- ClinVar RCV002283376
- UniProt VAR 081078
- Likely pathogenic
- Neutral 1 amino acid transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 26.50
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Likely pathogenic (Neutral 1 amino acid transport defect)
- EBI: Pathogenic (in HND)
- UniProt: Pathogenic (in HND)
- Most common in the REMAINING population (allele frequency 9.9e-05)
- 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)