G12* (p.Gly12Ter) variant of SLC47A1 (Q96FL8)
G12* (p.Gly12Ter) in SLC47A1 (Q96FL8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
G12* (p.Gly12Ter) variant details
- p.Gly12Ter
- gnomAD 17-19533973-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.269
- CADD 26.60
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available