D18D (p.Asp18Asp) variant of PRNP (Major prion protein)
D18D (p.Asp18Asp) in PRNP (Major prion protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
D18D (p.Asp18Asp) variant details
- p.Asp18Asp
- rs548116564
- gnomAD 20-4699274-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.212
- CADD 6.24
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available