G46S (p.Gly46Ser) variant of PRNP (Major prion protein)
G46S (p.Gly46Ser) in PRNP (Major prion protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
G46S (p.Gly46Ser) variant details
- p.Gly46Ser
- cosmic curated COSV10890
- Ensembl rs1922387474
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.52
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.18
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available