G305R (p.Gly305Arg) variant of PRRT2 (Q7Z6L0)
G305R (p.Gly305Arg) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
G305R (p.Gly305Arg) variant details
- p.Gly305Arg
- rs767799831
- ClinGen CA395480572
- ClinVar RCV003595384
- ExAC rs767799831
- Pathogenic
- Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.83
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Episodic kinesigenic dyskinesia)
- EBI: Pathogenic (in EKD1)
- UniProt: Pathogenic (in EKD1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression. (PMID 22209761)
- Cited in: Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. (PMID 22101681)