Y30* (p.Tyr30Ter) variant of SERPINE1 (P05121)
Y30* (p.Tyr30Ter) in SERPINE1 (P05121) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
Y30* (p.Tyr30Ter) variant details
- p.Tyr30Ter
- gnomAD 7-101128483-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.392
- CADD 33.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available