A3G (p.Ala3Gly) variant of PRRT2 (Q7Z6L0)
A3G (p.Ala3Gly) in PRRT2 (Q7Z6L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Episodic kinesigenic dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A3G (p.Ala3Gly) variant details
- p.Ala3Gly
- rs1555502548
- ClinGen CA395476977
- ClinVar RCV001234649
- ClinVar RCV005000083
- Uncertain significance
- not provided; Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.10
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Episodic kinesigenic dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available