Q75R (p.Gln75Arg) variant of PRNP (Major prion protein)
Q75R (p.Gln75Arg) in PRNP (Major prion protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
Q75R (p.Gln75Arg) variant details
- p.Gln75Arg
- gnomAD 20-4699444-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.69
- CADD 22.10
- PolyPhen-2 0.99
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available