R7C (p.Arg7Cys) variant of PLAU (P00749)
R7C (p.Arg7Cys) 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.
R7C (p.Arg7Cys) variant details
- p.Arg7Cys
- TOPMed rs2096124149
- gnomAD rs2096124149
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.14
- MetaLR 0.27
- MetaSVM -0.85
- CADD 11.70
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available