D43G (p.Asp43Gly) variant of PRRT2 (Q7Z6L0)
D43G (p.Asp43Gly) in PRRT2 (Q7Z6L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Episodic kinesigenic dyskinesia 1; Episodic kinesigenic dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
D43G (p.Asp43Gly) variant details
- p.Asp43Gly
- rs1596890089
- ClinGen CA395477386
- ClinVar RCV003058113
- ClinVar RCV003448476
- Uncertain significance
- Episodic kinesigenic dyskinesia 1; Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.10
- CADD 9.22
- PolyPhen-2 0.20
- SIFT 0.11
- ClinVar: Uncertain significance (Episodic kinesigenic dyskinesia 1; Episodic kinesigenic dyskines)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)
- Cited in: EFNS guidelines on diagnosis and treatment of primary dystonias. (PMID 20482602)