H25I (p.His25Ile) variant of PLAU (P00749)
H25I (p.His25Ile) in PLAU (P00749) is a protein-truncating 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.
H25I (p.His25Ile) variant details
- p.His25Ile
- rs1417576768
- gnomAD 10-73911899-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.346
- CADD 17.10
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available