W281R (p.Trp281Arg) variant of PRRT2 (Q7Z6L0)
W281R (p.Trp281Arg) in PRRT2 (Q7Z6L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Episodic kinesigenic dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
W281R (p.Trp281Arg) variant details
- p.Trp281Arg
- rs1567380135
- ClinGen CA395480065
- ClinVar RCV002233245
- Ensembl rs1567380135
- Likely pathogenic
- Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- AlphaMissense 1.00
- MetaLR 0.78
- MetaSVM 0.72
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.45
- ClinVar: Likely pathogenic (Episodic kinesigenic dyskinesia)
- EBI: Pathogenic (in EKD1)
- UniProt: Pathogenic (in EKD1)
- Structural context available
- Cited in: Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis. (PMID 22131361)
- Cited in: Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. (PMID 22101681)