P28T (p.Pro28Thr) variant of PRNP (Major prion protein)
P28T (p.Pro28Thr) in PRNP (Major prion protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
P28T (p.Pro28Thr) variant details
- p.Pro28Thr
- TOPMed rs1369247240
- gnomAD rs1369247240
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.51
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available