G62R (p.Gly62Arg) variant of PRRT2 (Q7Z6L0)
G62R (p.Gly62Arg) in PRRT2 (Q7Z6L0) is a missense change. Clinical records from ClinVar 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 0.24 / 1. The record also includes population frequency data and structural context.
G62R (p.Gly62Arg) variant details
- p.Gly62Arg
- cosmic curated COSV54886
- Uncertain significance
- Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.08
- CADD 17.40
- PolyPhen-2 0.28
- SIFT 0.09
- ClinVar: Uncertain significance (Episodic kinesigenic dyskinesia)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available