A306V (p.Ala306Val) variant of PRRT2 (Q7Z6L0)
A306V (p.Ala306Val) in PRRT2 (Q7Z6L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Episodic kinesigenic dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
A306V (p.Ala306Val) variant details
- p.Ala306Val
- rs1596894089
- ClinGen CA395480583
- ClinVar RCV001309672
- Ensembl rs1596894089
- Likely pathogenic
- Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.94
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Episodic kinesigenic dyskinesia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available