R7H (p.Arg7His) variant of PLAU (P00749)
R7H (p.Arg7His) in PLAU (P00749) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R7H (p.Arg7His) variant details
- p.Arg7His
- ExAC rs752151133
- TOPMed rs752151133
- gnomAD rs752151133
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.24
- MetaLR 0.33
- MetaSVM -0.80
- CADD 5.26
- PolyPhen-2 0.00
- SIFT 0.54
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available