R14W (p.Arg14Trp) variant of SLC6A19 (Q695T7)
R14W (p.Arg14Trp) 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 0.57 / 1. The record also includes population frequency data and structural context.
R14W (p.Arg14Trp) variant details
- p.Arg14Trp
- rs754340294
- ClinGen CA3182541
- ClinVar RCV003072207
- ExAC rs754340294
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.49
- ESM-1b 1.00
- AlphaMissense 0.57
- CADD 24.40
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available