G93R (p.Gly93Arg) variant of SLC6A19 (Q695T7)
G93R (p.Gly93Arg) in SLC6A19 (Q695T7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Neutral 1 amino acid transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G93R (p.Gly93Arg) variant details
- p.Gly93Arg
- rs757679627
- ClinGen CA3182636
- ClinVar RCV002025161
- ClinVar RCV005397229
- Likely pathogenic
- not provided; Neutral 1 amino acid transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- REVEL 0.99
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; 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 9.4e-05)
- Structural context available
- Cited in: Further evidence for allelic heterogeneity in Hartnup disorder. (PMID 18484095)
- Cited in: Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations. (PMID 19185582)