R57S (p.Arg57Ser) variant of SLC6A19 (Q695T7)
R57S (p.Arg57Ser) 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 0.85 / 1. The record also includes population frequency data and structural context.
R57S (p.Arg57Ser) variant details
- p.Arg57Ser
- ExAC rs762989809
- TOPMed rs762989809
- gnomAD rs762989809
- Likely pathogenic
- in HND
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely pathogenic (in HND)
- UniProt: Likely pathogenic (in HND)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available