R32* (p.Arg32Ter) variant of SLC47A1 (Q96FL8)
R32* (p.Arg32Ter) in SLC47A1 (Q96FL8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R32* (p.Arg32Ter) variant details
- p.Arg32Ter
- gnomAD 17-19534033-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.573
- CADD 35.00
- Population evidence available
- Structural context available
- Literature evidence available