S29P (p.Ser29Pro) variant of PLAU (P00749)
S29P (p.Ser29Pro) in PLAU (P00749) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S29P (p.Ser29Pro) variant details
- p.Ser29Pro
- ExAC rs779261663
- gnomAD rs779261663
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.37
- MetaLR 0.09
- MetaSVM -1.03
- CADD 23.00
- PolyPhen-2 0.52
- SIFT 0.54
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available