P579L (p.Pro579Leu) variant of SLC6A19 (Q695T7)
P579L (p.Pro579Leu) in SLC6A19 (Q695T7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of SLC6A19-related disorder; 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.
P579L (p.Pro579Leu) variant details
- p.Pro579Leu
- rs751554174
- UniProt VAR 081079
- ExAC rs751554174
- TOPMed rs751554174
- Likely pathogenic
- SLC6A19-related disorder; Neutral 1 amino acid transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.51
- CADD 24.10
- PolyPhen-2 0.78
- SIFT 0.00
- ClinVar: Likely pathogenic (SLC6A19-related disorder; Neutral 1 amino acid transport defect)
- EBI: Pathogenic (in HND)
- UniProt: Pathogenic (in HND)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00028)
- Structural context available
- Cited in: Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations. (PMID 19185582)
- Cited in: Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder. (PMID 15286787)