G66R (p.Gly66Arg) variant of SLC6A19 (Q695T7)
G66R (p.Gly66Arg) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G66R (p.Gly66Arg) variant details
- p.Gly66Arg
- rs1251095994
- UniProt VAR 081070
- TOPMed rs1251095994
- gnomAD rs1251095994
- Likely pathogenic
- Neutral 1 amino acid transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.62
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Neutral 1 amino acid transport defect)
- EBI: Pathogenic (in HND)
- UniProt: Pathogenic (in HND)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)