G42S (p.Gly42Ser) variant of PRNP (Major prion protein)
G42S (p.Gly42Ser) in PRNP (Major prion protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
G42S (p.Gly42Ser) variant details
- p.Gly42Ser
- gnomAD rs1287360365
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.19
- CADD 21.20
- PolyPhen-2 0.04
- SIFT 0.17
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available