G26C (p.Gly26Cys) variant of PRRT2 (Q7Z6L0)
G26C (p.Gly26Cys) 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 0.40 / 1. The record also includes population frequency data and structural context.
G26C (p.Gly26Cys) variant details
- p.Gly26Cys
- rs2142422369
- ClinGen CA395477177
- ClinVar RCV001955685
- Ensembl rs2142422369
- Uncertain significance
- Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.14
- CADD 18.70
- PolyPhen-2 0.57
- SIFT 0.01
- ClinVar: Uncertain significance (Episodic kinesigenic dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available