Q172* (p.Gln172Ter) variant of REN (Renin)
Q172* (p.Gln172Ter) in REN (Renin) 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.
Q172* (p.Gln172Ter) variant details
- p.Gln172Ter
- cosmic curated COSV10454
- ESP rs139795475
- TOPMed rs139795475
- gnomAD rs139795475
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.862
- CADD 38.00
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available