T188R (p.Thr188Arg) variant of PRNP (Major prion protein)
T188R (p.Thr188Arg) in PRNP (Major prion protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Huntington disease-like 1; PRNP-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
T188R (p.Thr188Arg) variant details
- p.Thr188Arg
- rs372878791
- ClinGen CA9752097
- ClinVar RCV003064598
- UniProt VAR 008747
- Likely pathogenic
- Huntington disease-like 1; PRNP-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.70
- CADD 20.90
- PolyPhen-2 0.28
- SIFT 0.06
- ClinVar: Likely pathogenic (Huntington disease-like 1; PRNP-related disorder)
- EBI: Likely pathogenic (in dbSNP:rs372878791)
- UniProt: Likely pathogenic (in dbSNP:rs372878791)
- Most common in the Latino/Admixed American population (allele frequency 0.00018)
- Structural context available
- Cited in: Molecular genetics of human prion diseases in Germany. (PMID 10987652)
- Cited in: Genetic Prion Disease. (PMID 20301407)