Y60* (p.Tyr60Ter) variant of SERPINE1 (P05121)
Y60* (p.Tyr60Ter) in SERPINE1 (P05121) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Y60* (p.Tyr60Ter) variant details
- p.Tyr60Ter
- gnomAD 7-101128573-T-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available