P25R (p.Pro25Arg) variant of PRRT2 (Q7Z6L0)
P25R (p.Pro25Arg) 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 0.68 / 1. The record also includes population frequency data and structural context.
P25R (p.Pro25Arg) variant details
- p.Pro25Arg
- rs1267727472
- ClinGen CA395477169
- ClinVar RCV003593658
- TOPMed rs1267727472
- Uncertain significance
- Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- CADD 14.20
- ClinVar: Uncertain significance (Episodic kinesigenic dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00011)
- Structural context available