S21I (p.Ser21Ile) variant of PLAU (P00749)
S21I (p.Ser21Ile) in PLAU (P00749) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S21I (p.Ser21Ile) variant details
- p.Ser21Ile
- gnomAD rs1321041282
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.15
- MetaLR 0.44
- MetaSVM -0.51
- CADD 33.00
- PolyPhen-2 0.36
- SIFT 0.34
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available