H69M (p.His69Met) variant of PRNP (Major prion protein)
H69M (p.His69Met) in PRNP (Major prion protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
H69M (p.His69Met) variant details
- p.His69Met
- rs1282604670
- gnomAD 20-4699423-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.531
- CADD 5.42
- Most common in the African/African-American population (allele frequency 0.00015)
- Structural context available
- Literature evidence available