S17T (p.Ser17Thr) variant of PRNP (Major prion protein)
S17T (p.Ser17Thr) in PRNP (Major prion protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Huntington disease-like 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S17T (p.Ser17Thr) variant details
- p.Ser17Thr
- rs368154579
- ClinGen CA9751996
- ClinVar RCV001091285
- ClinVar RCV003626668
- Uncertain significance
- Huntington disease-like 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.24
- CADD 16.90
- PolyPhen-2 0.05
- SIFT 0.44
- ClinVar: Uncertain significance (Huntington disease-like 1; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00012)
- Structural context available
- Cited in: Genetic Prion Disease. (PMID 20301407)