R32W (p.Arg32Trp) variant of SLC6A19 (Q695T7)
R32W (p.Arg32Trp) in SLC6A19 (Q695T7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
R32W (p.Arg32Trp) variant details
- p.Arg32Trp
- rs762242971
- ClinGen CA3182559
- ClinVar RCV002606695
- ExAC rs762242971
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.56
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available