Y78T (p.Tyr78Thr) variant of PLAU (P00749)
Y78T (p.Tyr78Thr) 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.
Y78T (p.Tyr78Thr) variant details
- p.Tyr78Thr
- rs1291846035
- gnomAD 10-73912957-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.354
- CADD 23.70
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available