S23* (p.Ser23Ter) variant of SLC47A1 (Q96FL8)
S23* (p.Ser23Ter) in SLC47A1 (Q96FL8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
S23* (p.Ser23Ter) variant details
- p.Ser23Ter
- gnomAD 17-19534007-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.509
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available