H69Y (p.His69Tyr) variant of PRNP (Major prion protein)
H69Y (p.His69Tyr) in PRNP (Major prion protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
H69Y (p.His69Tyr) variant details
- p.His69Tyr
- Ensembl rs1922402078
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.53
- CADD 18.80
- PolyPhen-2 0.99
- SIFT 0.22
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available