G22D (p.Gly22Asp) variant of PRRT2 (Q7Z6L0)
G22D (p.Gly22Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
G22D (p.Gly22Asp) variant details
- p.Gly22Asp
- rs1385761586
- ClinGen CA395477137
- ClinVar RCV003848762
- TOPMed rs1385761586
- Uncertain significance
- Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.18
- CADD 20.10
- PolyPhen-2 0.20
- SIFT 0.01
- ClinVar: Uncertain significance (Episodic kinesigenic dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available