E120Q (p.Glu120Gln) variant of PLAT (P00750)
E120Q (p.Glu120Gln) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
E120Q (p.Glu120Gln) variant details
- p.Glu120Gln
- gnomAD rs1223819876
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.24
- CADD 26.90
- PolyPhen-2 0.95
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available