E22* (p.Glu22Ter) variant of SIRT7 (Q9NRC8)
E22* (p.Glu22Ter) in SIRT7 (Q9NRC8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
E22* (p.Glu22Ter) variant details
- p.Glu22Ter
- ExAC rs771398362
- TOPMed rs771398362
- gnomAD rs771398362
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.843
- CADD 40.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available