R32L (p.Arg32Leu) variant of SLC6A19 (Q695T7)
R32L (p.Arg32Leu) in SLC6A19 (Q695T7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
R32L (p.Arg32Leu) variant details
- p.Arg32Leu
- 1000Genomes rs190631924
- ExAC rs190631924
- TOPMed rs190631924
- gnomAD rs190631924
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.78
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available