Q59R (p.Gln59Arg) variant of PRNP (Major prion protein)
Q59R (p.Gln59Arg) in PRNP (Major prion protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
Q59R (p.Gln59Arg) variant details
- p.Gln59Arg
- gnomAD 20-4699395-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.573
- CADD 27.90
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available