G72S (p.Gly72Ser) variant of PRNP (Major prion protein)
G72S (p.Gly72Ser) in PRNP (Major prion protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G72S (p.Gly72Ser) variant details
- p.Gly72Ser
- TOPMed rs1209553535
- gnomAD rs1209553535
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.24
- CADD 14.00
- PolyPhen-2 0.25
- SIFT 0.33
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available