C108R (p.Cys108Arg) variant of PLAT (P00750)
C108R (p.Cys108Arg) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
C108R (p.Cys108Arg) variant details
- p.Cys108Arg
- gnomAD rs1471460909
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.92
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available