S43N (p.Ser43Asn) variant of PRNP (Major prion protein)
S43N (p.Ser43Asn) in PRNP (Major prion protein) is a missense change. 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.
S43N (p.Ser43Asn) variant details
- p.Ser43Asn
- gnomAD rs1198634509
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.26
- CADD 16.40
- PolyPhen-2 0.01
- SIFT 0.45
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available