E25K (p.Glu25Lys) variant of PLAT (P00750)
E25K (p.Glu25Lys) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
E25K (p.Glu25Lys) variant details
- p.Glu25Lys
- TOPMed rs1257214193
- gnomAD rs1257214193
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.38
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available