E20D (p.Glu20Asp) variant of SERPINE1 (P05121)
E20D (p.Glu20Asp) in SERPINE1 (P05121) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
E20D (p.Glu20Asp) variant details
- p.Glu20Asp
- ExAC rs768073380
- gnomAD rs768073380
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.11
- CADD 9.87
- PolyPhen-2 0.02
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 1.7e-05)
- Structural context available