P28Q (p.Pro28Gln) variant of SERPINE1 (P05121)
P28Q (p.Pro28Gln) in SERPINE1 (P05121) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
P28Q (p.Pro28Gln) variant details
- p.Pro28Gln
- ExAC rs754112992
- TOPMed rs754112992
- gnomAD rs754112992
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.11
- CADD 4.61
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available