S317N (p.Ser317Asn) variant of PRRT2 (Q7Z6L0)
S317N (p.Ser317Asn) in PRRT2 (Q7Z6L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Episodic kinesigenic dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
S317N (p.Ser317Asn) variant details
- p.Ser317Asn
- rs387907125
- ClinGen CA129726
- ClinVar RCV000024170
- ClinVar RCV001067788
- Pathogenic
- Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- AlphaMissense 0.79
- MetaLR 0.63
- MetaSVM 0.36
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.44
- ClinVar: Pathogenic (Episodic kinesigenic dyskinesia)
- EBI: Pathogenic (in ICCA)
- UniProt: Pathogenic (in ICCA)
- Structural context available
- Cited in: PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. (PMID 22243967)
- Cited in: Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. (PMID 22832103)