C62L (p.Cys62Leu) variant of PLAU (P00749)
C62L (p.Cys62Leu) in PLAU (P00749) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
C62L (p.Cys62Leu) variant details
- p.Cys62Leu
- gnomAD 10-73912313-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.684
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available