Q131E (p.Gln131Glu) variant of PLAT (P00750)
Q131E (p.Gln131Glu) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
Q131E (p.Gln131Glu) variant details
- p.Gln131Glu
- ExAC rs763647679
- gnomAD rs763647679
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.05
- CADD 2.12
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available