A56V (p.Ala56Val) variant of PRRT2 (Q7Z6L0)
A56V (p.Ala56Val) in PRRT2 (Q7Z6L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Episodic kinesigenic dyskinesia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A56V (p.Ala56Val) variant details
- p.Ala56Val
- rs780909712
- ClinGen CA7994482
- ClinVar RCV001235545
- ClinVar RCV001664772
- Conflicting interpretations
- Episodic kinesigenic dyskinesia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.08
- CADD 3.27
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Conflicting classifications of pathogenicity (Episodic kinesigenic dyskinesia; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available