S17R (p.Ser17Arg) variant of PRNP (Major prion protein)
S17R (p.Ser17Arg) in PRNP (Major prion protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
S17R (p.Ser17Arg) variant details
- p.Ser17Arg
- gnomAD 20-4699271-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.63
- CADD 23.80
- PolyPhen-2 0.89
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available