R14E (p.Arg14Glu) variant of SLC26A2 (Sulfate transporter)
R14E (p.Arg14Glu) in SLC26A2 (Sulfate transporter) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R14E (p.Arg14Glu) variant details
- p.Arg14Glu
- gnomAD 5-149977691-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.195
- CADD 16.10
- Population evidence available
- Structural context available
- Literature evidence available