R32Q (p.Arg32Gln) variant of SLC6A19 (Q695T7)
R32Q (p.Arg32Gln) in SLC6A19 (Q695T7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neutral 1 amino acid transport defect; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
R32Q (p.Arg32Gln) variant details
- p.Arg32Gln
- rs190631924
- ClinGen CA3182561
- ClinVar RCV001933148
- ClinVar RCV005002666
- Uncertain significance
- Neutral 1 amino acid transport defect; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.41
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Neutral 1 amino acid transport defect; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available