F12C (p.Phe12Cys) variant of PRNP (Major prion protein)
F12C (p.Phe12Cys) in PRNP (Major prion protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
F12C (p.Phe12Cys) variant details
- p.Phe12Cys
- gnomAD 20-4699253-CTT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.415
- CADD 27.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available