Q75* (p.Gln75Ter) variant of SIRT7 (Q9NRC8)
Q75* (p.Gln75Ter) in SIRT7 (Q9NRC8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
Q75* (p.Gln75Ter) variant details
- p.Gln75Ter
- TOPMed rs2040835444
- gnomAD rs2040835444
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.861
- CADD 50.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available