E46* (p.Glu46Ter) variant of SIRT7 (Q9NRC8)
E46* (p.Glu46Ter) in SIRT7 (Q9NRC8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
E46* (p.Glu46Ter) variant details
- p.Glu46Ter
- TOPMed rs1016849597
- gnomAD rs1016849597
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.827
- CADD 38.00
- Most common in the REMAINING population (allele frequency 2e-05)
- Structural context available