D43E (p.Asp43Glu) variant of PLAT (P00750)
D43E (p.Asp43Glu) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
D43E (p.Asp43Glu) variant details
- p.Asp43Glu
- TOPMed rs1197841254
- gnomAD rs1197841254
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.35
- CADD 8.24
- PolyPhen-2 0.18
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available