G19V (p.Gly19Val) variant of SERPINE1 (P05121)
G19V (p.Gly19Val) in SERPINE1 (P05121) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
G19V (p.Gly19Val) variant details
- p.Gly19Val
- TOPMed rs1178751523
- gnomAD rs1178751523
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.14
- CADD 14.50
- PolyPhen-2 0.04
- SIFT 0.05
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available