A13S (p.Ala13Ser) variant of SLC6A19 (Q695T7)
A13S (p.Ala13Ser) in SLC6A19 (Q695T7) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
A13S (p.Ala13Ser) variant details
- p.Ala13Ser
- 1000Genomes rs200291939
- ExAC rs200291939
- TOPMed rs200291939
- gnomAD rs200291939
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 0.57
- PolyPhen-2 0.00
- SIFT 0.75
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available