F12L (p.Phe12Leu) variant of PRNP (Major prion protein)
F12L (p.Phe12Leu) in PRNP (Major prion protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
F12L (p.Phe12Leu) variant details
- p.Phe12Leu
- gnomAD 20-4699254-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.54
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available