A65G (p.Ala65Gly) variant of PRRT2 (Q7Z6L0)
A65G (p.Ala65Gly) 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 0.16 / 1. The record also includes population frequency data and structural context.
A65G (p.Ala65Gly) variant details
- p.Ala65Gly
- rs768706409
- ClinGen CA7994490
- ClinVar RCV002866122
- ExAC rs768706409
- Uncertain significance
- Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.03
- CADD 22.00
- PolyPhen-2 0.03
- SIFT 0.00
- ClinVar: Uncertain significance (Episodic kinesigenic dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available