G19D (p.Gly19Asp) variant of SERPINE1 (P05121)
G19D (p.Gly19Asp) in SERPINE1 (P05121) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
G19D (p.Gly19Asp) variant details
- p.Gly19Asp
- TOPMed rs1178751523
- gnomAD rs1178751523
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.39
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available