E23Q (p.Glu23Gln) variant of PLAU (P00749)
E23Q (p.Glu23Gln) in PLAU (P00749) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
E23Q (p.Glu23Gln) variant details
- p.Glu23Gln
- rs1439187534
- gnomAD 10-73911919-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.22
- CADD 19.20
- Population evidence available
- Structural context available
- Literature evidence available