Q52P (p.Gln52Pro) variant of PRNP (Major prion protein)
Q52P (p.Gln52Pro) in PRNP (Major prion protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
Q52P (p.Gln52Pro) variant details
- p.Gln52Pro
- gnomAD rs1425430077
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.50
- CADD 23.70
- PolyPhen-2 0.71
- SIFT 0.24
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available