p.His61 Gly62delinsArg variant of PRNP (Major prion protein)
p.His61 Gly62delinsArg in PRNP (Major prion protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
p.His61 Gly62delinsArg variant details
- gnomAD 20-4699401-CATG-C
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.368
- CADD 18.60
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available