P44S (p.Pro44Ser) variant of PRNP (Major prion protein)
P44S (p.Pro44Ser) in PRNP (Major prion protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
P44S (p.Pro44Ser) variant details
- p.Pro44Ser
- TOPMed rs943366320
- gnomAD rs943366320
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.42
- CADD 22.60
- PolyPhen-2 0.76
- SIFT 0.07
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available