R57P (p.Arg57Pro) variant of SLC6A19 (Q695T7)
R57P (p.Arg57Pro) 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 0.78 / 1. The record also includes population frequency data and structural context.
R57P (p.Arg57Pro) variant details
- p.Arg57Pro
- 1000Genomes rs146608591
- ExAC rs146608591
- TOPMed rs146608591
- gnomAD rs146608591
- Likely pathogenic
- in HND
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.13
- MetaLR 0.22
- MetaSVM -0.92
- CADD 32.00
- EBI: Likely pathogenic (in HND)
- UniProt: Likely pathogenic (in HND)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available