Q36H (p.Gln36His) variant of PRRT2 (Q7Z6L0)
Q36H (p.Gln36His) 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 0.26 / 1. The record also includes population frequency data and structural context.
Q36H (p.Gln36His) variant details
- p.Gln36His
- rs764412207
- ClinGen CA7994474
- ClinVar RCV001298184
- ExAC rs764412207
- Uncertain significance
- Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.21
- CADD 18.70
- PolyPhen-2 0.52
- SIFT 0.01
- ClinVar: Uncertain significance (Episodic kinesigenic dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available