Q75del (p.Gln75del) variant of PRNP (Major prion protein)
Q75del (p.Gln75del) in PRNP (Major prion protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
Q75del (p.Gln75del) variant details
- rs1197265879
- gnomAD 20-4699441-GGCA-G
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.542
- CADD 12.80
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available