R57H (p.Arg57His) variant of SLC6A19 (Q695T7)
R57H (p.Arg57His) 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 0.76 / 1. The record also includes population frequency data and structural context.
R57H (p.Arg57His) variant details
- p.Arg57His
- rs146608591
- ClinGen CA3182583
- ClinVar RCV003128306
- 1000Genomes rs146608591
- Likely pathogenic
- Neutral 1 amino acid transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.07
- MetaLR 0.21
- MetaSVM -0.91
- CADD 32.00
- ClinVar: Likely pathogenic (Neutral 1 amino acid transport defect)
- EBI: Likely pathogenic (in HND)
- UniProt: Likely pathogenic (in HND)
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available