Y49* (p.Tyr49Ter) variant of PRNP (Major prion protein)
Y49* (p.Tyr49Ter) in PRNP (Major prion protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
Y49* (p.Tyr49Ter) variant details
- p.Tyr49Ter
- gnomAD 20-4699367-C-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.437
- CADD 34.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available