A306S (p.Ala306Ser) variant of PRRT2 (Q7Z6L0)
A306S (p.Ala306Ser) in PRRT2 (Q7Z6L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Episodic kinesigenic dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
A306S (p.Ala306Ser) variant details
- p.Ala306Ser
- rs727504111
- ClinGen CA395480579
- ClinVar RCV000520264
- ClinVar RCV001209198
- Conflicting interpretations
- not provided; Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.90
- AlphaMissense 0.15
- MetaLR 0.95
- MetaSVM 1.08
- CADD 24.80
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Episodic kinesigenic dyskinesia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available