K23M (p.Lys23Met) variant of PRNP (Major prion protein)
K23M (p.Lys23Met) in PRNP (Major prion protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
K23M (p.Lys23Met) variant details
- p.Lys23Met
- gnomAD 20-4699288-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.71
- CADD 26.40
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available