P54R (p.Pro54Arg) variant of PLAU (P00749)
P54R (p.Pro54Arg) in PLAU (P00749) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
P54R (p.Pro54Arg) variant details
- p.Pro54Arg
- gnomAD 10-73912290-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.42
- MetaLR 0.43
- MetaSVM -0.27
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available