G39R (p.Gly39Arg) variant of SERPINE1 (P05121)
G39R (p.Gly39Arg) in SERPINE1 (P05121) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
G39R (p.Gly39Arg) variant details
- p.Gly39Arg
- TOPMed rs1246094084
- gnomAD rs1246094084
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.89
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available