Q48* (p.Gln48Ter) variant of SERPINE1 (P05121)
Q48* (p.Gln48Ter) in SERPINE1 (P05121) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
Q48* (p.Gln48Ter) variant details
- p.Gln48Ter
- ExAC rs767807262
- TOPMed rs767807262
- gnomAD rs767807262
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.383
- CADD 34.00
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available