E23K (p.Glu23Lys) variant of PRRT2 (Q7Z6L0)
E23K (p.Glu23Lys) in PRRT2 (Q7Z6L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Seizures, benign familial infantile, 2; Episodic kinesigenic dyskinesia 1; Infan. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E23K (p.Glu23Lys) variant details
- p.Glu23Lys
- rs140383655
- ClinGen CA231418
- cosmic curated COSV99569
- ClinVar RCV000118066
- Conflicting interpretations
- Seizures, benign familial infantile, 2; Episodic kinesigenic dyskinesia 1; Infan
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.06
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Seizures, benign familial infantile, 2; Episodic kinesigenic dys)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BASQUE population (allele frequency 0.023)
- Structural context available
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)
- Cited in: EFNS guidelines on diagnosis and treatment of primary dystonias. (PMID 20482602)