R7T (p.Arg7Thr) variant of PLAU (P00749)
R7T (p.Arg7Thr) in PLAU (P00749) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
R7T (p.Arg7Thr) variant details
- p.Arg7Thr
- rs758106450
- gnomAD 10-73911908-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.07
- CADD 22.00
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available