H69P (p.His69Pro) variant of PRNP (Major prion protein)
H69P (p.His69Pro) in PRNP (Major prion protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
H69P (p.His69Pro) variant details
- p.His69Pro
- rs1568534300
- gnomAD 20-4699425-CATGGT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.733
- CADD 29.40
- Most common in the African/African-American population (allele frequency 0.00015)
- Structural context available
- Literature evidence available