D52E (p.Asp52Glu) variant of SERPINE1 (P05121)
D52E (p.Asp52Glu) in SERPINE1 (P05121) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
D52E (p.Asp52Glu) variant details
- p.Asp52Glu
- gnomAD 7-101128549-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.11
- CADD 22.90
- PolyPhen-2 0.93
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available