G42D (p.Gly42Asp) variant of PRNP (Major prion protein)
G42D (p.Gly42Asp) 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.
G42D (p.Gly42Asp) variant details
- p.Gly42Asp
- cosmic curated COSV10105
- ExAC rs746303257
- TOPMed rs746303257
- gnomAD rs746303257
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.52
- CADD 25.10
- PolyPhen-2 0.49
- SIFT 0.03
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available