E88K (p.Glu88Lys) variant of PLAT (P00750)
E88K (p.Glu88Lys) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
E88K (p.Glu88Lys) variant details
- p.Glu88Lys
- ExAC rs764826571
- TOPMed rs764826571
- gnomAD rs764826571
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.22
- CADD 13.40
- PolyPhen-2 0.09
- SIFT 0.37
- Most common in the Latino/Admixed American population (allele frequency 0.00046)
- Structural context available