K23Q (p.Lys23Gln) variant of PRNP (Major prion protein)
K23Q (p.Lys23Gln) in PRNP (Major prion protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
K23Q (p.Lys23Gln) variant details
- p.Lys23Gln
- gnomAD 20-4699287-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.64
- CADD 25.30
- PolyPhen-2 0.60
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available