G116E (p.Gly116Glu) variant of PLAT (P00750)
G116E (p.Gly116Glu) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
G116E (p.Gly116Glu) variant details
- p.Gly116Glu
- TOPMed rs1265270754
- gnomAD rs1265270754
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.87
- CADD 25.20
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available