R57L (p.Arg57Leu) variant of SLC6A19 (Q695T7)
R57L (p.Arg57Leu) in SLC6A19 (Q695T7) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in HND. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
R57L (p.Arg57Leu) variant details
- p.Arg57Leu
- 1000Genomes rs146608591
- ExAC rs146608591
- TOPMed rs146608591
- gnomAD rs146608591
- Likely pathogenic
- in HND
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.08
- MetaLR 0.20
- MetaSVM -0.90
- CADD 32.00
- EBI: Likely pathogenic (in HND)
- UniProt: Likely pathogenic (in HND)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available