P28L (p.Pro28Leu) variant of SERPINE1 (P05121)
P28L (p.Pro28Leu) in SERPINE1 (P05121) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
P28L (p.Pro28Leu) variant details
- p.Pro28Leu
- ExAC rs754112992
- TOPMed rs754112992
- gnomAD rs754112992
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.15
- CADD 9.05
- PolyPhen-2 0.01
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available