Y49Y (p.Tyr49Tyr) variant of PRNP (Major prion protein)
Y49Y (p.Tyr49Tyr) in PRNP (Major prion protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
Y49Y (p.Tyr49Tyr) variant details
- p.Tyr49Tyr
- gnomAD 20-4699367-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.245
- CADD 7.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available