S41Q (p.Ser41Gln) variant of PLAU (P00749)
S41Q (p.Ser41Gln) in PLAU (P00749) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S41Q (p.Ser41Gln) variant details
- p.Ser41Gln
- gnomAD 10-73912242-CAT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.295
- CADD 27.70
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available