A57V (p.Ala57Val) variant of PRRT2 (Q7Z6L0)
A57V (p.Ala57Val) 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.
A57V (p.Ala57Val) variant details
- p.Ala57Val
- rs1262636745
- ClinGen CA395477547
- ClinVar RCV003594831
- gnomAD rs1262636745
- Uncertain significance
- Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.09
- CADD 7.84
- PolyPhen-2 0.06
- SIFT 0.10
- ClinVar: Uncertain significance (Episodic kinesigenic dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available