G13R (p.Gly13Arg) variant of PRRT2 (Q7Z6L0)
G13R (p.Gly13Arg) in PRRT2 (Q7Z6L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Episodic kinesigenic dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
G13R (p.Gly13Arg) variant details
- p.Gly13Arg
- rs770164221
- ExAC rs770164221
- gnomAD rs770164221
- ClinGen CA395477040
- Likely benign
- Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.11
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Likely benign (Episodic kinesigenic dyskinesia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 4.6e-05)
- Structural context available