C9* (p.Cys9Ter) variant of SERPINE1 (P05121)
C9* (p.Cys9Ter) in SERPINE1 (P05121) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
C9* (p.Cys9Ter) variant details
- p.Cys9Ter
- gnomAD 7-101128415-ACCTG
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.258
- CADD 25.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available