E19R (p.Glu19Arg) variant of SLC47A1 (Q96FL8)
E19R (p.Glu19Arg) in SLC47A1 (Q96FL8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
E19R (p.Glu19Arg) variant details
- p.Glu19Arg
- gnomAD 17-19533991-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.207
- CADD 17.80
- Population evidence available
- Structural context available
- Literature evidence available