p.His69 Gly70delinsArg variant of PRNP (Major prion protein)
p.His69 Gly70delinsArg in PRNP (Major prion protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
p.His69 Gly70delinsArg variant details
- rs755064098
- gnomAD 20-4699425-CATG-C
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.604
- CADD 14.10
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available