L26* (p.Leu26Ter) variant of SLC47A1 (Q96FL8)
L26* (p.Leu26Ter) in SLC47A1 (Q96FL8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L26* (p.Leu26Ter) variant details
- p.Leu26Ter
- TOPMed rs1200085369
- gnomAD rs1200085369
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 33.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available