S41F (p.Ser41Phe) variant of PLAU (P00749)
S41F (p.Ser41Phe) in PLAU (P00749) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
S41F (p.Ser41Phe) variant details
- p.Ser41Phe
- ExAC rs775296618
- TOPMed rs775296618
- gnomAD rs775296618
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.65
- MetaLR 0.69
- MetaSVM 0.38
- CADD 22.50
- PolyPhen-2 0.05
- SIFT 0.05
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available