R14G (p.Arg14Gly) variant of SLC6A19 (Q695T7)
R14G (p.Arg14Gly) 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 0.47 / 1. The record also includes population frequency data and structural context.
R14G (p.Arg14Gly) variant details
- p.Arg14Gly
- ExAC rs754340294
- TOPMed rs754340294
- gnomAD rs754340294
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.59
- CADD 23.50
- PolyPhen-2 0.86
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available