Q75E (p.Gln75Glu) variant of PRNP (Major prion protein)
Q75E (p.Gln75Glu) in PRNP (Major prion protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
Q75E (p.Gln75Glu) variant details
- p.Gln75Glu
- ExAC rs753810713
- TOPMed rs753810713
- gnomAD rs753810713
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.50
- CADD 19.60
- PolyPhen-2 0.98
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available