E42* (p.Glu42Ter) variant of SIRT7 (Q9NRC8)
E42* (p.Glu42Ter) in SIRT7 (Q9NRC8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
E42* (p.Glu42Ter) variant details
- p.Glu42Ter
- TOPMed rs2040838071
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.818
- CADD 37.00
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available