D18E (p.Asp18Glu) variant of PRNP (Major prion protein)
D18E (p.Asp18Glu) in PRNP (Major prion protein) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
D18E (p.Asp18Glu) variant details
- p.Asp18Glu
- 1000Genomes rs548116564
- ExAC rs548116564
- TOPMed rs548116564
- gnomAD rs548116564
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.17
- CADD 9.39
- PolyPhen-2 0.05
- SIFT 0.19
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available