Q75K (p.Gln75Lys) variant of PRNP (Major prion protein)
Q75K (p.Gln75Lys) in PRNP (Major prion protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
Q75K (p.Gln75Lys) variant details
- p.Gln75Lys
- gnomAD 20-4699443-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.64
- CADD 20.40
- PolyPhen-2 0.98
- SIFT 0.13
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available