Q130* (p.Gln130Ter) variant of SIRT7 (Q9NRC8)
Q130* (p.Gln130Ter) in SIRT7 (Q9NRC8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
Q130* (p.Gln130Ter) variant details
- p.Gln130Ter
- TOPMed rs1049371911
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.871
- CADD 48.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available